Canonical Allele Identifier: PA221119
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 93246
ClinVar RCV Id: RCV000079123 RCV000534293 RCV002477225 RCV003997197
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Lys4210Arg
CA023995
NM_000540.3:c.12629A>G