Canonical Allele Identifier: PA2573064816
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1303159
ClinVar RCV Id: RCV001756658
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Leu574Val
CA405691277
NM_001042723.2:c.1720C>G