Allele Registry

Canonical Allele Identifier: PA916037502

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000088976

RCV000669836

RCV003390790

ClinVar Variation:

102727

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Val177Leu	CA229610 NM_001354304.2:c.529G>C CA386297003 NM_001354304.2:c.529G>T