Canonical Allele Identifier: PA212153
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 224366
ClinVar RCV Id: RCV000210021 RCV001853347 RCV002478754 RCV003133180
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Arg492Cys
CA212151
NM_000540.3:c.1474C>T