Canonical Allele Identifier: PA891865157
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 590555
ClinVar RCV Id: RCV000721584 RCV001300607 RCV003999852
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Arg1759Trp
CA066837
NM_000540.3:c.5275C>T