Canonical Allele Identifier: PA2825200697
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1357112
ClinVar RCV Id: RCV001880600
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Leu2418Val
CA405669256
NM_000540.3:c.7252C>G