Canonical Allele Identifier: PA2825421406
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 281479
ClinVar RCV Id: RCV000280179 RCV000335257 RCV000338681 RCV000398390 RCV000656969 RCV000818112 RCV001266921 RCV001731554
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Arg3545Trp
CA054285
NM_001042723.2:c.10633C>T