Canonical Allele Identifier: PA2573175752
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1483510
ClinVar RCV Id: RCV002003185 RCV004011056
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Ala3300Thr
CA084954
NM_001042723.2:c.9898G>A