Allele Registry

Canonical Allele Identifier: PA113208

Gene: GJB2 HGNC NCBI

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