Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
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Canonical Allele Identifier: PA891865177

Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 590578

ClinVar RCV Id: RCV000721634 RCV001060012

ClinVar Variation Id: 1210320

ClinVar RCV Id: RCV001580440

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Ser2345Arg	CA405667777 NM_000540.3:c.7033A>C CA405667781 NM_000540.3:c.7035C>G CA405667782 NM_000540.3:c.7035C>A