Allele Registry

Canonical Allele Identifier: PA658825336

Gene: PAH HGNC NCBI

ClinVar Variation Id: 556882

ClinVar RCV Id: RCV000672945

ClinVar Variation Id: 872835

ClinVar RCV Id: RCV001093510

HGVS (amino-acid)	Matching Registered Transcripts
NP_000268.1:p.Phe382Leu	CA16020948 NM_000277.3:c.1146C>G CA386493220 NM_000277.3:c.1146C>A CA386493225 NM_000277.3:c.1144T>C