Canonical Allele Identifier: PA2580146347
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2068396
ClinVar RCV Id: RCV002974799
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Arg533Leu
CA405689745
NM_001042723.2:c.1598G>T