Canonical Allele Identifier: PA2499236896
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1213821
ClinVar RCV Id: RCV001591770 RCV001866148
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Phe2340Leu
CA308107330
NM_001042723.2:c.7020C>G
CA405667490
NM_001042723.2:c.7018T>C
CA405667498
NM_001042723.2:c.7020C>A