Canonical Allele Identifier: PA2580140480
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2071451
ClinVar RCV Id: RCV002975591
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Leu143Arg
CA413502371
NM_001097642.3:c.428T>G