Canonical Allele Identifier: PA645457885
Gene: HPRT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 431129
ClinVar RCV Id: RCV000496113

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000185.1:p.Gly16Val
CA414711272
NM_000194.3:c.47G>T