Canonical Allele Identifier: PA891865180
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 590581
ClinVar RCV Id: RCV000721637 RCV002485827 RCV002535010 RCV003999857
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ile2358Leu
CA069102
NM_000540.3:c.7072A>C