Canonical Allele Identifier: PA2825077525
Gene: GJB1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Trp132Arg
CA413502153
NM_000166.6:c.394T>A
CA413502154
NM_000166.6:c.394T>C