Allele Registry

Canonical Allele Identifier: PA916037770

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000088721

RCV001386151

ClinVar Variation:

102490

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Ser349Ala	CA229298 NM_001354304.2:c.1045T>G