Canonical Allele Identifier: PA2825422761
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 948134
ClinVar RCV Id: RCV001219333 RCV004010726
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Asp4690Glu
CA405682446
NM_001042723.2:c.14070C>A
CA405682449
NM_001042723.2:c.14070C>G