ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826053349
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_001161744.1:p.Ala896Val
CA2231486
NM_001168272.2:c.2687C>T