Canonical Allele Identifier: PA915962520
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 590578
ClinVar RCV Id: RCV000721634 RCV001060012
ClinVar Variation Id: 1210320
ClinVar RCV Id: RCV001580440
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Ser2345Arg
CA405667777
NM_001042723.2:c.7033A>C
CA405667781
NM_001042723.2:c.7035C>G
CA405667782
NM_001042723.2:c.7035C>A