Canonical Allele Identifier: PA1139680691
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 946852
ClinVar RCV Id: RCV001217800 RCV004010716
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Ile2321Thr
CA068944
NM_001042723.2:c.6962T>C