Allele Registry

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: PA229614

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000088978

RCV000721182

ClinVar Variation:

102729

HGVS (amino-acid)	Matching Registered Transcripts
NP_000268.1:p.Tyr179Asn	CA229613 NM_000277.3:c.535T>A