Canonical Allele Identifier: PA891865178
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 590579
ClinVar RCV Id: RCV000721635
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Glu2348Lys
CA082310
NM_000540.3:c.7042G>A