Canonical Allele Identifier: PA915971751
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 637609

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.His100Gln
CA413501833
NM_001097642.3:c.300C>A
CA413501835
NM_001097642.3:c.300C>G