Canonical Allele Identifier: PA105147
Gene: HPRT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 10044
ClinVar RCV Id: RCV000010743 RCV000010742 RCV001851784
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000185.1:p.Gly70Glu
CA120899
NM_000194.3:c.209G>A