ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580133687
Gene: RYR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1909913
ClinVar RCV Id:
RCV002600543
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Tyr2092His
CA345410939
NM_001035.3:c.6274T>C