Canonical Allele Identifier: PA2825198087
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2649795
ClinVar RCV Id: RCV003425128
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Leu1650Pro
CA405652499
NM_000540.3:c.4949T>C