Canonical Allele Identifier: PA2825204213
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3068653
ClinVar RCV Id: RCV003994722
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ala4352Pro
CA405673253
NM_000540.3:c.13054G>C