Allele Registry

Canonical Allele Identifier: PA916037673

Gene: PAH HGNC NCBI

ClinVar Allele:

108616

ClinVar RCV:

RCV000089141

RCV000758134

ClinVar Variation:

102880

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Glu286Lys	CA229826 NM_001354304.2:c.856G>A