Allele Registry

Canonical Allele Identifier: PA105278

Gene: HPRT1 HGNC NCBI

ClinVar RCV:

RCV000010722

RCV000010723

ClinVar Variation:

10034

HGVS (amino-acid)	Matching Registered Transcripts
NP_000185.1:p.Leu41Pro	CA120890 NM_000194.3:c.122T>C