ClinGen Allele Registry
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Canonical Allele Identifier:
PA915962679
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
329071
ClinVar RCV Id:
RCV000268256
RCV000303400
RCV000358298
RCV000323389
RCV002521221
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Arg2625Leu
CA070934
NM_001042723.2:c.7874G>T