ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825423132
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65955
ClinVar RCV Id:
RCV000056202
RCV000119564
RCV001588886
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Ile4933Met
CA024260
NM_001042723.2:c.14799C>G