Canonical Allele Identifier: PA915961685
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 212096
ClinVar RCV Id: RCV000194141
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Arg530Leu
CA208114
NM_001042723.2:c.1589G>T