Allele Registry

Canonical Allele Identifier: PA916037357

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000088797

ClinVar Variation:

102563

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Ser40Leu	CA229393 NM_001354304.2:c.119C>T