Canonical Allele Identifier: PA2825420813
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3069421
ClinVar RCV Id: RCV004007965
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Arg2593Cys
CA070217
NM_001042723.2:c.7777C>T