Canonical Allele Identifier: PA2499233197
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1047755
ClinVar RCV Id: RCV001352513 RCV002264278 RCV002283542 RCV002486466 RCV004005249
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ala4643Thr
CA060657
NM_000540.3:c.13927G>A