ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139674104
Gene: RYR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
858817
ClinVar RCV Id:
RCV002553964
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Gly2400Glu
CA345396787
NM_001035.3:c.7199G>A