Allele Registry

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Canonical Allele Identifier: PA2825420293

Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3070850

ClinVar RCV Id: RCV004013360

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.Ser1752Arg	CA405654314 NM_001042723.2:c.5254A>C CA405654320 NM_001042723.2:c.5256C>A CA405654322 NM_001042723.2:c.5256C>G