Allele Registry

Canonical Allele Identifier: PA645419716

Gene: PAH HGNC NCBI

ClinVar Allele:

421894

ClinVar RCV:

RCV000493939

RCV000672958

ClinVar Variation:

430401

HGVS (amino-acid)	Matching Registered Transcripts
NP_000268.1:p.Leu213Phe	CA386296662 NM_000277.3:c.637C>T