Canonical Allele Identifier: PA2825422537
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 93252
ClinVar RCV Id: RCV000180740 RCV000148789 RCV000415198 RCV000287126 RCV000584956 RCV001080400 RCV001796962 RCV002477227
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Asp4500His
CA024057
NM_001042723.2:c.13498G>C