Canonical Allele Identifier: PA1139716304
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 881103
ClinVar RCV Id: RCV001109877 RCV001109875 RCV001109876 RCV001856469 RCV003331045
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Asp66Asn
CA387461646
NM_004004.6:c.196G>A