Canonical Allele Identifier: PA915961731
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133108
ClinVar RCV Id: RCV000119587 RCV001068141 RCV002222020 RCV002222022 RCV002222024 RCV002222025 RCV002222026 RCV002222021 RCV002222023 RCV002477305 RCV001705880
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Arg614Leu
CA024313
NM_001042723.2:c.1841G>T