Canonical Allele Identifier: PA915962886
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 159865
ClinVar RCV Id: RCV000147452 RCV000148825 RCV000990204 RCV001122766 RCV001122767 RCV001850001 RCV000721757
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Ile3253Thr
CA025003
NM_001042723.2:c.9758T>C