Canonical Allele Identifier: PA2825539036
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_001093422.2:p.Thr267Met
CA204907
NM_001099952.4:c.800C>T