Allele Registry

Canonical Allele Identifier: PA105147

Gene: HPRT1 HGNC NCBI

ClinVar Allele:

25083

ClinVar RCV:

RCV000010742

RCV000010743

RCV001851784

ClinVar Variation:

10044

HGVS (amino-acid)	Matching Registered Transcripts
NP_000185.1:p.Gly70Glu	CA120899 NM_000194.3:c.209G>A