Allele Registry

Canonical Allele Identifier: PA916037769

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000088723

RCV001040702

ClinVar Variation:

102492

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Ser349Leu	CA229302 NM_001354304.2:c.1046C>T