Canonical Allele Identifier: PA915962226
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 478228
ClinVar RCV Id: RCV000557129 RCV000996873 RCV003999500 RCV002483515
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Ala1370Thr
CA065561
NM_001042723.2:c.4108G>A