Allele Registry

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Canonical Allele Identifier: PA2825201291

Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2115436

ClinVar RCV Id: RCV003046457

ClinVar Variation Id: 2195006

ClinVar RCV Id: RCV002647564 RCV004009494

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Asp2629Glu	CA070983 NM_000540.3:c.7887C>G CA405673961 NM_000540.3:c.7887C>A