ClinGen Allele Registry
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Canonical Allele Identifier:
PA087869
Gene: RYR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
222786
ClinVar RCV Id:
RCV000208232
RCV001187848
RCV002517403
RCV003997689
RCV004020563
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Ser1280Cys
CA086470
NM_001035.3:c.3839C>G