Allele Registry

Canonical Allele Identifier: PA916037764

Gene: PAH HGNC NCBI

ClinVar Allele:

461793

ClinVar RCV:

RCV000553622

ClinVar Variation:

458078

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Gly346Glu	CA16020921 NM_001354304.2:c.1037G>A