Canonical Allele Identifier: PA915962558
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 478269
ClinVar RCV Id: RCV000545980 RCV003133377 RCV003999511
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Ala2391Val
CA069207
NM_001042723.2:c.7172C>T