Allele Registry

Canonical Allele Identifier: PA916037475

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000088949

RCV000672775

ClinVar Variation:

102701

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Ala165Pro	CA229581 NM_001354304.2:c.493G>C