Canonical Allele Identifier: PA220480
Gene: HPRT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 92605
ClinVar RCV Id: RCV000078346

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000185.1:p.Lys166Glu
CA220479
NM_000194.3:c.496A>G