Canonical Allele Identifier: PA645456216
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 329049
ClinVar RCV Id: RCV000303533 RCV000358367 RCV000398295 RCV000393407 RCV003320631
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Arg2118Pro
CA068150
NM_000540.3:c.6353G>C