Canonical Allele Identifier: PA113250
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 44747
ClinVar RCV Id: RCV000037849 RCV000730888 RCV001089545 RCV001257047
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Glu129Lys
CA134970
NM_004004.6:c.385G>A