Canonical Allele Identifier: PA105847
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 132995
ClinVar RCV Id: RCV000119411 RCV001787932 RCV001787934 RCV001588932 RCV001787930 RCV001787931 RCV001787933 RCV001787935 RCV001787936 RCV003591679
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Cys35Arg
CA023838
NM_000540.3:c.103T>C