Canonical Allele Identifier: PA2580282929
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1802030
ClinVar RCV Id: RCV002464849
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Asn176Lys
CA387460962
NM_004004.6:c.528C>G
CA387460963
NM_004004.6:c.528C>A