Allele Registry

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Canonical Allele Identifier: PA231855

Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133055

ClinVar RCV Id: RCV000119495 RCV001450012

ClinVar Variation Id: 1067471

ClinVar RCV Id: RCV001378751

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Leu4665Pro	CA024095 NM_000540.3:c.13994_13995delinsCT CA405681584 NM_000540.3:c.13994T>C