Canonical Allele Identifier: PA2825200340
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1421756
ClinVar RCV Id: RCV001917084
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Leu2254Pro
CA308104454
NM_000540.3:c.6761T>C