Canonical Allele Identifier: PA2825076694
Gene: GJB1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Thr18Ser
CA413500633
NM_000166.6:c.52A>T
CA413500639
NM_000166.6:c.53C>G