Canonical Allele Identifier: PA204909
Gene: ITPR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 208786
ClinVar RCV Id: RCV000190812 RCV000677366 RCV001552791 RCV003152595
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002213.5:p.Thr267Met
CA204907
NM_002222.7:c.800C>T