Canonical Allele Identifier: PA113169
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 17011
ClinVar RCV Id: RCV000018535 RCV000211763 RCV001291330 RCV001257037 RCV001811187 RCV001799506
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Arg75Trp
CA257676
NM_004004.6:c.223C>T