ClinGen Allele Registry
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Canonical Allele Identifier:
PA181437
Gene: RYR2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000154819
RCV000515200
RCV000678836
RCV000725016
RCV000768765
RCV002326882
RCV002514978
ClinVar Variation:
178120
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Cys1489Arg
CA009541
NM_001035.3:c.4465T>C