Canonical Allele Identifier: PA658663712
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 449355

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Phe141Leu
CA413502334
NM_001097642.3:c.421T>C
CA413502345
NM_001097642.3:c.423C>A
CA413502347
NM_001097642.3:c.423C>G