Canonical Allele Identifier: PA113195
Gene: GJB2 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Asp179Asn
CA257681
NM_004004.6:c.535G>A