Canonical Allele Identifier: PA2825423026
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 645993
ClinVar RCV Id: RCV000800187
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Asp4874Glu
CA405688119
NM_001042723.2:c.14622C>A
CA405688120
NM_001042723.2:c.14622C>G