Canonical Allele Identifier: PA2573064822
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1303814
ClinVar RCV Id: RCV001758107 RCV002538763 RCV004008990
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Thr1847Asn
CA405656087
NM_001042723.2:c.5540C>A