Canonical Allele Identifier: PA915961407
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133046
ClinVar RCV Id: RCV000119474 RCV000148813 RCV000518398 RCV000531069 RCV000853260 RCV004017407
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Arg44His
CA024037
NM_001042723.2:c.131G>A