Allele Registry

Canonical Allele Identifier: PA105060

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000000618

RCV000078522

RCV003415608

ClinVar Variation:

587

HGVS (amino-acid)	Matching Registered Transcripts
NP_000268.1:p.Arg158Gln	CA251530 NM_000277.3:c.473G>A