Canonical Allele Identifier: PA105445
Gene: HPRT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 10040
ClinVar RCV Id: RCV000010735 RCV000010734
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000185.1:p.Val130Asp
CA120895
NM_000194.3:c.389T>A