Canonical Allele Identifier: PA2825423009
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 159837
ClinVar RCV Id: RCV000147415 RCV000527572 RCV002514841
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Ser4862Asn
CA024198
NM_001042723.2:c.14585G>A