Allele Registry

Canonical Allele Identifier: PA916037389

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000088865

RCV000758100

ClinVar Variation:

102623

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Ile65Asn	CA229479 NM_001354304.2:c.194T>A