Canonical Allele Identifier: PA113160
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 17027
ClinVar RCV Id: RCV000018554 RCV000018555 RCV000211764 RCV000254728 RCV000210858 RCV001257038 RCV001291331
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Arg75Gln
CA127030
NM_004004.6:c.224G>A