ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573075224
Gene: ITPR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
243076
ClinVar RCV Id:
RCV000235044
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365381.1:p.Gly2595Ala
CA10584078
NM_001378452.1:c.7784G>C