Allele Registry

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Canonical Allele Identifier: PA2499236802

Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1004193

ClinVar RCV Id: RCV001300863

ClinVar Variation Id: 2722910

ClinVar RCV Id: RCV003592958

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.Arg2403His	CA069241 NM_001042723.2:c.7208G>A CA2697556575 NM_001042723.2:c.7208_7209delinsAT