Canonical Allele Identifier: PA915972103
Gene: GJB1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Phe193Leu
CA413503215
NM_001097642.3:c.577T>C
CA413503220
NM_001097642.3:c.579C>A
CA413503221
NM_001097642.3:c.579C>G