Canonical Allele Identifier: PA104951
Gene: HPRT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 29985
ClinVar RCV Id: RCV000022877 RCV000690811 RCV001092162 RCV001255647 RCV003398561
JSON-LD

Amino-acid Alleles

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