ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA306892
Gene: RYR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
201288
ClinVar RCV Id:
RCV000182771
RCV000621404
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Ile11Thr
CA009182
NM_001035.3:c.32T>C