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: PA105250

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000088842

RCV000490373

RCV001175359

RCV003398704

ClinVar Variation:

102601

HGVS (amino-acid)	Matching Registered Transcripts
NP_000268.1:p.Arg53His	CA229447 NM_000277.3:c.158G>A