ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA306935
Gene: RYR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
201333
ClinVar RCV Id:
RCV000182819
RCV002516899
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Arg4157Gln
CA007532
NM_001035.3:c.12470G>A