Canonical Allele Identifier: PA1139681865
Gene: GJB1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Asn14Lys
CA413499510
NM_001097642.3:c.42C>A
CA413499512
NM_001097642.3:c.42C>G