Canonical Allele Identifier: PA2825422206
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133042
ClinVar RCV Id: RCV000119467 RCV001450008
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Glu4278Val
CA024011
NM_001042723.2:c.12833A>T