Canonical Allele Identifier: PA645385340
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 242831
ClinVar RCV Id: RCV000234850
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Lys22Asn
CA10584002
NM_004004.6:c.66G>T
CA387462101
NM_004004.6:c.66G>C