Allele Registry

Canonical Allele Identifier: PA916037473

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000088948

RCV000993614

ClinVar Variation:

102700

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Ala165Thr	CA229579 NM_001354304.2:c.493G>A