Canonical Allele Identifier: PA915961941
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 590508
ClinVar RCV Id: RCV000721479 RCV001592928 RCV002535004
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Arg975Gln
CA064203
NM_001042723.2:c.2924G>A