Canonical Allele Identifier: PA645456058
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 291315
ClinVar RCV Id: RCV002051701 RCV001590909
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Arg533Ser
CA10607101
NM_000540.3:c.1597C>A