ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573075294
Gene: ITPR1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000032771
RCV000624908
RCV001091682
RCV003389037
ClinVar Variation:
39571
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365381.1:p.Val1562Met
CA261182
NM_001378452.1:c.4684G>A