Canonical Allele Identifier: PA915961698
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 590484
ClinVar RCV Id: RCV004527759
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Asp544Glu
CA405690143
NM_001042723.2:c.1632C>A
CA405690145
NM_001042723.2:c.1632C>G