Allele Registry

Canonical Allele Identifier: PA1139741926

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV001093427

ClinVar Variation:

872776

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Ala49Asp	CA386302329 NM_001354304.2:c.146C>A