Canonical Allele Identifier: PA2499236748
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1050940
ClinVar RCV Id: RCV001358912 RCV001580397 RCV002504585 RCV003298562 RCV004005259
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Arg492His
CA308122919
NM_001042723.2:c.1475G>A