Canonical Allele Identifier: PA915962894
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 523379
ClinVar RCV Id: RCV000626709
ClinVar Variation Id: 1330368
ClinVar RCV Id: RCV001803461
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Trp3284Arg
CA405692341
NM_001042723.2:c.9850T>A
CA405692345
NM_001042723.2:c.9850T>C