Canonical Allele Identifier: PA2573180207
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_001036188.1:p.Arg2588Cys
CA070179
NM_001042723.2:c.7762C>T