Allele Registry

Canonical Allele Identifier: PA916037761

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000088715

RCV000586982

ClinVar Variation:

102484

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Ala345Ser	CA286497 NM_001354304.2:c.1033G>T