Canonical Allele Identifier: PA2825201812
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2582972
ClinVar RCV Id: RCV003334215
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Gln2993Lys
CA405683439
NM_000540.3:c.8977C>A