ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
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:
PA105989
Gene: PAH
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Leu194Pro
CA229633
NM_000277.3:c.581T>C