Canonical Allele Identifier: PA1139678131
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 835688
ClinVar RCV Id: RCV001036629 RCV003886468 RCV003994193
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Ala537Thr
CA062190
NM_001042723.2:c.1609G>A