Canonical Allele Identifier: PA2825201235
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2190070
ClinVar RCV Id: RCV002612037
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.His2621Gln
CA405673709
NM_000540.3:c.7863C>A
CA405673729
NM_000540.3:c.7863C>G