Canonical Allele Identifier: PA2825200490
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2689897
ClinVar RCV Id: RCV003491422
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Arg2330Cys
CA068962
NM_000540.3:c.6988C>T