Allele Registry

Canonical Allele Identifier: PA104990

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000088781

RCV000781679

ClinVar Variation:

102547

HGVS (amino-acid)	Matching Registered Transcripts
NP_000268.1:p.Ala395Pro	CA229373 NM_000277.3:c.1183G>C