Allele Registry

Canonical Allele Identifier: PA105408

Gene: PAH HGNC NCBI

ClinVar Allele:

108281

ClinVar RCV:

RCV000088779

RCV000714571

ClinVar Variation:

102545

HGVS (amino-acid)	Matching Registered Transcripts
NP_000268.1:p.Asp394His	CA229371 NM_000277.3:c.1180G>C