Canonical Allele Identifier: PA2825422770
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1301434
ClinVar RCV Id: RCV001733441 RCV001775183 RCV002543912
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Trp4697Arg
CA405682529
NM_001042723.2:c.14089T>A
CA405682530
NM_001042723.2:c.14089T>C