Canonical Allele Identifier: PA2825200272
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1065119
ClinVar RCV Id: RCV001580410 RCV002051719 RCV001871976
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Cys2237Tyr
CA405666261
NM_000540.3:c.6710G>A