ClinGen Allele Registry
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Canonical Allele Identifier:
PA915962632
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
665828
ClinVar RCV Id:
RCV000824196
RCV004002861
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Leu2559Gln
CA069960
NM_001042723.2:c.7676T>A