Allele Registry

Canonical Allele Identifier: PA916037556

Gene: PAH HGNC NCBI

ClinVar RCV:

RCV000089034

RCV001854514

ClinVar Variation:

102783

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Gln226His	CA229691 NM_001354304.2:c.678G>C CA6748882 NM_001354304.2:c.678G>T