ClinGen Allele Registry
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Canonical Allele Identifier:
PA658737488
Gene: RYR2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000587484
RCV002530914
RCV004002424
ClinVar Variation:
496092
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Arg1760Gln
CA086864
NM_001035.3:c.5279G>A