ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825505313
Gene: ITPR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1201962
ClinVar RCV Id:
RCV001567486
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001093422.2:p.Arg2186Gln
CA2232655
NM_001099952.4:c.6557G>A