ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580274280
Gene: ITPR3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2370115
ClinVar RCV Id:
RCV004209826
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002215.2:p.Gln713Leu
CA363698077
NM_002224.4:c.2138A>T