Canonical Allele Identifier: PA2825204828
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3070812
ClinVar RCV Id: RCV004013322
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Glu4750Lys
CA405684608
NM_000540.3:c.14248G>A