Allele Registry

Canonical Allele Identifier: PA105632

Gene: PAH HGNC NCBI

ClinVar Allele:

108416

ClinVar RCV:

RCV000088928

RCV001053534

RCV003894944

ClinVar Variation:

102680

HGVS (amino-acid)	Matching Registered Transcripts
NP_000268.1:p.Gly148Ser	CA229551 NM_000277.3:c.442G>A