ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829366268
Gene: ITPR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3111746
ClinVar RCV Id:
RCV004398606
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002213.5:p.Tyr2174Ser
CA2232656
NM_002222.7:c.6521A>C