Allele Registry

Canonical Allele Identifier: PA916037636

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000089106

RCV003323400

ClinVar Variation:

102847

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Arg270Ser	CA229782 NM_001354304.2:c.810A>T CA386294571 NM_001354304.2:c.810A>C