Canonical Allele Identifier: PA2573233171
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1297075
ClinVar RCV Id: RCV002051744

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Cys53Ser
CA387461762
NM_004004.6:c.158G>C
CA387461767
NM_004004.6:c.157T>A