ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645418103
Gene: ITPR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
345726
ClinVar RCV Id:
RCV000363994
RCV000415780
RCV000677357
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001161744.1:p.Met1138Val
CA2231667
NM_001168272.2:c.3412A>G