Allele Registry

Canonical Allele Identifier: PA916037641

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000758104

ClinVar Variation:

619152

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.His271Gln	CA16020865 NM_001354304.2:c.813T>G CA386294567 NM_001354304.2:c.813T>A