ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580274136
Gene: ITPR1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV002663199
ClinVar Variation:
1944548
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002213.5:p.Ala19Thr
CA351793915
NM_002222.7:c.55G>A