Allele Registry

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Canonical Allele Identifier: PA2573063025

Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1301434

ClinVar RCV Id: RCV001733441 RCV001775183 RCV002543912

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Trp4702Arg	CA405682529 NM_000540.3:c.14104T>A CA405682530 NM_000540.3:c.14104T>C