ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829366279
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_002213.5:p.Asn2186Ser
CA68828015
NM_002222.7:c.6557A>G