Allele Registry

Canonical Allele Identifier: PA916037836

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000000623

RCV000088813

ClinVar Variation:

592

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Arg413Pro	CA229414 NM_001354304.2:c.1238G>C