Allele Registry

Canonical Allele Identifier: PA916037857

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000088834

RCV000632880

RCV003407485

ClinVar Variation:

102595

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Ala447Asp	CA229437 NM_001354304.2:c.1340C>A