Canonical Allele Identifier: PA2741826434
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2863019
ClinVar RCV Id: RCV003742331
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Asp66Glu
CA413501394
NM_001097642.3:c.198C>A
CA413501397
NM_001097642.3:c.198C>G