Allele Registry

Canonical Allele Identifier: PA916037619

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000089092

RCV000758091

RCV001377752

ClinVar Variation:

102833

1066686

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Phe263Leu	CA229760 NM_001354304.2:c.789C>G CA386295393 NM_001354304.2:c.789C>A CA386295406 NM_001354304.2:c.787T>C