Allele Registry

Canonical Allele Identifier: PA104951

Gene: HPRT1 HGNC NCBI

ClinVar RCV:

RCV000022877

RCV000690811

RCV001092162

RCV001255647

RCV003398561

ClinVar Variation:

29985

HGVS (amino-acid)	Matching Registered Transcripts
NP_000185.1:p.Arg48His	CA128815 NM_000194.3:c.143G>A