Canonical Allele Identifier: PA2580146791
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2143709
ClinVar RCV Id: RCV003068023
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Arg1742His
CA066779
NM_001042723.2:c.5225G>A