Canonical Allele Identifier: PA658668194
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 478279
ClinVar RCV Id: RCV000537262
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Arg2612Lys
CA070560
NM_000540.3:c.7835G>A