Canonical Allele Identifier: PA2825423067
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133090
ClinVar RCV Id: RCV000119553
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Gly4894Arg
CA024235
NM_001042723.2:c.14680G>A
CA405690308
NM_001042723.2:c.14680G>C