Canonical Allele Identifier: PA2499236805
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1210302
ClinVar RCV Id: RCV001580403
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Asp2431Val
CA405669526
NM_001042723.2:c.7292A>T