ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA092597
Gene: RYR2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000013828
ClinVar Variation:
12962
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Gln4201Arg
CA007638
NM_001035.3:c.12602A>G