Canonical Allele Identifier: PA915962586
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133198
ClinVar RCV Id: RCV000119702 RCV001802871
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Glu2439Asp
CA024758
NM_001042723.2:c.7317G>C
CA405669669
NM_001042723.2:c.7317G>T