Allele Registry

Canonical Allele Identifier: PA916037822

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000088800

RCV001269043

ClinVar Variation:

102566

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Phe402Leu	CA229396 NM_001354304.2:c.1204T>C CA386493106 NM_001354304.2:c.1206T>G CA386493107 NM_001354304.2:c.1206T>A