Canonical Allele Identifier: PA2825422604
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 282726
ClinVar RCV Id: RCV000623983 RCV000721328 RCV000533233 RCV003338497 RCV003995761
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Arg4559Trp
CA060399
NM_001042723.2:c.13675C>T