Canonical Allele Identifier: PA2741816888
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3015766
ClinVar RCV Id: RCV003873853
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ala4403del
CA2740096903
NM_000540.3:c.13208_13210del