Allele Registry

Canonical Allele Identifier: PA275936

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000190375

ClinVar Variation:

208179

HGVS (amino-acid)	Matching Registered Transcripts
NP_000268.1:p.Ala342Glu	CA275935 NM_000277.3:c.1025C>A