ClinGen Allele Registry
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Canonical Allele Identifier:
PA261479
Gene: RYR2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000036762
RCV000182658
RCV000621755
RCV002513428
ClinVar Variation:
43801
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Arg169Gln
CA009771
NM_001035.3:c.506G>A