Canonical Allele Identifier: PA2499265345
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1064972
ClinVar RCV Id: RCV001375241 RCV002271648 RCV002499771 RCV003327514
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Gly109Glu
CA6904281
NM_004004.6:c.326G>A