Canonical Allele Identifier: PA658802068
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 523076
ClinVar RCV Id: RCV000626286 RCV003133414 RCV002529788
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Met2816Val
CA072049
NM_001042723.2:c.8446A>G