Allele Registry

Canonical Allele Identifier: PA916037853

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000088824

RCV001789756

ClinVar Variation:

102585

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Leu430Pro	CA229426 NM_001354304.2:c.1289T>C