Allele Registry

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Canonical Allele Identifier: PA891865182

Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 590582

ClinVar RCV Id: RCV000721640 RCV002282345

ClinVar Variation Id: 803554

ClinVar RCV Id: RCV000990201

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Gly2375Arg	CA405668242 NM_000540.3:c.7123G>A CA405668243 NM_000540.3:c.7123G>C