Canonical Allele Identifier: PA2580108282
Gene: HPRT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1708862
ClinVar RCV Id: RCV002288146

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000185.1:p.Leu68Pro
CA414712071
NM_000194.3:c.203T>C