Canonical Allele Identifier: PA915962486
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133168
ClinVar RCV Id: RCV000119666 RCV000148822 RCV000528915 RCV002498551 RCV003988828
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Val2214Ile
CA024634
NM_001042723.2:c.6640G>A