Canonical Allele Identifier: PA2499236801
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1015752
ClinVar RCV Id: RCV001314661 RCV002499608 RCV003132401
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Arg2385His
CA069189
NM_001042723.2:c.7154G>A