Canonical Allele Identifier: PA2825422692
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12992
ClinVar RCV Id: RCV000013864 RCV000119487 RCV001851836 RCV001824568
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Thr4632Ala
CA024078
NM_001042723.2:c.13894A>G