Canonical Allele Identifier: PA2825198231
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1912705
ClinVar RCV Id: RCV002608144
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Cys1685Arg
CA308092971
NM_000540.3:c.5053T>C