Canonical Allele Identifier: PA915962317
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 500414
ClinVar RCV Id: RCV000595041 RCV000806473 RCV002483623 RCV004002462
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Arg1670His
CA405653037
NM_001042723.2:c.5009G>A