Canonical Allele Identifier: PA105698
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133108
ClinVar RCV Id: RCV000119587 RCV001068141 RCV002222020 RCV002222022 RCV002222024 RCV002222025 RCV002222026 RCV002222021 RCV002222023 RCV002477305 RCV001705880
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Arg614Leu
CA024313
NM_000540.3:c.1841G>T