Canonical Allele Identifier: PA105365
Gene: HPRT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 10043
ClinVar RCV Id: RCV000010740 RCV000010741
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000185.1:p.Phe199Val
CA120898
NM_000194.3:c.595T>G