Canonical Allele Identifier: PA2825278131
Gene: GJB3 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005752.1:p.Trp44Ser
CA754759
NM_001005752.2:c.131G>C