Canonical Allele Identifier: PA2825201058
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1518478
ClinVar RCV Id: RCV002021776
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Arg2588Cys
CA070179
NM_000540.3:c.7762C>T