Allele Registry

Canonical Allele Identifier: PA105685

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000089073

RCV000169396

ClinVar Variation:

102818

HGVS (amino-acid)	Matching Registered Transcripts
NP_000268.1:p.Gly247Val	CA229736 NM_000277.3:c.740G>T