This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
Canonical Allele Identifier: CA414778501
Gene: MT-ND2 HGNC NCBI
Linked-Data Service Error:
Error Failed to retrieve aggregated linked-data
Status NodeJS Error object: timeout of 3500ms exceeded
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.5014C>T , J01415.2:m.5014C>T GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361453.3:c.545C>T ENSP00000355046.4:p.Ser182Phe
Search 100 bp 5'
Search 100 bp 3'