Canonical Allele Identifier: PA2580147079
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2143328
ClinVar RCV Id: RCV003051454
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Pro3302Arg
CA074333
NM_001042723.2:c.9905C>G