Canonical Allele Identifier: PA342006
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 21389
ClinVar RCV Id: RCV000020575 RCV000602210 RCV000757333 RCV000678862 RCV001257035 RCV002286406
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Ser19Thr
CA342005
NM_004004.6:c.56G>C