Allele Registry

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Canonical Allele Identifier: PA915962678

Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 575350

ClinVar RCV Id: RCV000697540 RCV000721678

ClinVar Variation Id: 1355275

ClinVar RCV Id: RCV001866834

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.Arg2625Cys	CA070926 NM_001042723.2:c.7873C>T CA2573156352 NM_001042723.2:c.7872_7873delinsTT