Canonical Allele Identifier: PA113208
Gene: GJB2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Asp46Glu
CA387461837
NM_004004.6:c.138T>G
CA387461839
NM_004004.6:c.138T>A