Canonical Allele Identifier: PA2580140586
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2187930
ClinVar RCV Id: RCV002616139
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Val209Leu
CA413503339
NM_001097642.3:c.625G>C
CA413503342
NM_001097642.3:c.625G>T