ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645390061
Gene: RYR2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002411425
RCV002480340
RCV002526384
ClinVar Variation:
404181
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Arg2806Cys
CA16610006
NM_001035.3:c.8416C>T