Allele Registry

Canonical Allele Identifier: PA916037765

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000088719

RCV001543642

ClinVar Variation:

102488

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Leu347Phe	CA229296 NM_001354304.2:c.1039C>T