ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891857632
Gene: RYR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
580536
ClinVar RCV Id:
RCV002533701
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Val4190Met
CA345413644
NM_001035.3:c.12568G>A