Allele Registry

Canonical Allele Identifier: PA916037540

Gene: PAH HGNC NCBI

ClinVar Allele:

421894

ClinVar RCV:

RCV000493939

RCV000672958

ClinVar Variation:

430401

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Leu213Phe	CA386296662 NM_001354304.2:c.637C>T