Canonical Allele Identifier: PA2580147074
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1985420
ClinVar RCV Id: RCV002780735
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Ala3291Val
CA405692521
NM_001042723.2:c.9872C>T