Allele Registry

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Canonical Allele Identifier: PA658804800

Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 523379

ClinVar RCV Id: RCV000626709

ClinVar Variation Id: 1330368

ClinVar RCV Id: RCV001803461

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Trp3284Arg	CA405692341 NM_000540.3:c.9850T>A CA405692345 NM_000540.3:c.9850T>C