Canonical Allele Identifier: PA098319
Gene: GJB1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Phe193Leu
CA413503215
NM_000166.6:c.577T>C
CA413503220
NM_000166.6:c.579C>A
CA413503221
NM_000166.6:c.579C>G