Canonical Allele Identifier: PA105278
Gene: HPRT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 10034
ClinVar RCV Id: RCV000010722 RCV000010723
JSON-LD

Amino-acid Alleles

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