Allele Registry

Canonical Allele Identifier: PA098248

Gene: GJB1 HGNC NCBI

ClinVar Variation Id: 449355

HGVS (amino-acid)	Matching Registered Transcripts
NP_000157.1:p.Phe141Leu	CA413502334 NM_000166.6:c.421T>C CA413502345 NM_000166.6:c.423C>A CA413502347 NM_000166.6:c.423C>G