Canonical Allele Identifier: PA2825421878
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 201152
ClinVar RCV Id: RCV000210653 RCV000542897 RCV000721259 RCV002288788 RCV003147380 RCV003114333
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Ser4023Leu
CA023962
NM_001042723.2:c.12068C>T