ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825503939
Gene: ITPR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1944548
ClinVar RCV Id:
RCV002663199
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001093422.2:p.Ala19Thr
CA351793915
NM_001099952.4:c.55G>A