Canonical Allele Identifier: PA2573180290
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1385697
ClinVar RCV Id: RCV001888945
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Gly3288Arg
CA074252
NM_001042723.2:c.9862G>A
CA405692453
NM_001042723.2:c.9862G>C