Canonical Allele Identifier: PA915961947
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 161367
ClinVar RCV Id: RCV000148809 RCV000209988 RCV001565509 RCV002265625 RCV000655531
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Arg986Cys
CA024378
NM_001042723.2:c.2956C>T