Canonical Allele Identifier: PA098289
Gene: GJB1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Phe180Leu
CA413503052
NM_000166.6:c.538T>C
CA413503063
NM_000166.6:c.540C>A
CA413503066
NM_000166.6:c.540C>G