Canonical Allele Identifier: PA2573064803
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1303276
ClinVar RCV Id: RCV001757831 RCV001803394 RCV001882824 RCV004008983
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Arg3283Gln
CA074227
NM_001042723.2:c.9848G>A