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: PA114361

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000000616

RCV000000617

RCV000088868

ClinVar Variation:

586

HGVS (amino-acid)	Matching Registered Transcripts
NP_000268.1:p.Met1Val