Canonical Allele Identifier: PA1139716354
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 989604
ClinVar RCV Id: RCV001277470
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Lys108Glu
CA387461393
NM_004004.6:c.322A>G