Canonical Allele Identifier: PA2573178470
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1383979
ClinVar RCV Id: RCV001895649

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Val74Leu
CA10445281
NM_001097642.3:c.220G>C
CA413501549
NM_001097642.3:c.220G>T