Canonical Allele Identifier: PA915961575
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133245
ClinVar RCV Id: RCV000119775 RCV001588963 RCV001854587 RCV003227667 RCV003227669 RCV003227668 RCV003227663 RCV003227664 RCV003227665 RCV003227666
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Arg328Trp
CA025007
NM_001042723.2:c.982C>T