ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826053864
Gene: ITPR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2432931
ClinVar RCV Id:
RCV003133762
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001161744.1:p.Asn2234Ser
CA68828015
NM_001168272.2:c.6701A>G