Canonical Allele Identifier: PA645431199
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 429329
ClinVar RCV Id: RCV000492924 RCV000789185 RCV000704995
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Lys103Glu
CA413501861
NM_001097642.3:c.307A>G