ClinGen Allele Registry
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Canonical Allele Identifier:
PA891865083
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
590594
ClinVar RCV Id:
RCV000721663
RCV000797005
RCV002499330
RCV003999860
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Arg256His
CA069967
NM_000540.3:c.767G>A