Allele Registry

Canonical Allele Identifier: PA916037753

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000088705

RCV003330433

ClinVar Variation:

102474

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Ala342Pro	CA229277 NM_001354304.2:c.1024G>C