Canonical Allele Identifier: PA645418097
Gene: ITPR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 345716
ClinVar RCV Id: RCV000377614 RCV000677361 RCV001598658 RCV002523265
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002213.5:p.Ala896Val
CA2231486
NM_002222.7:c.2687C>T