Canonical Allele Identifier: PA2825422397
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 567660
ClinVar RCV Id: RCV000687813 RCV002227487 RCV003133516
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Asp4409Glu
CA308109596
NM_001042723.2:c.13227C>G
CA405674577
NM_001042723.2:c.13227C>A