ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915962661
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
499811
ClinVar RCV Id:
RCV000596538
RCV003352935
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Arg2600Cys
CA405672205
NM_001042723.2:c.7798C>T