Allele Registry

Canonical Allele Identifier: PA105506

Gene: PAH HGNC NCBI

ClinVar Allele:

108519

ClinVar RCV:

RCV000089034

RCV001854514

ClinVar Variation:

102783

HGVS (amino-acid)	Matching Registered Transcripts
NP_000268.1:p.Gln226His	CA229691 NM_000277.3:c.678G>C CA6748882 NM_000277.3:c.678G>T