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: PA105069

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000088941

RCV000409986

ClinVar Variation:

102693

HGVS (amino-acid)	Matching Registered Transcripts
NP_000268.1:p.Arg158Trp	CA229570 NM_000277.3:c.472C>T