Canonical Allele Identifier: PA097732
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 21086
ClinVar RCV Id: RCV000020176 RCV000789812 RCV000654837 RCV001815168 RCV002345250
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Glu186Lys
CA341609
NM_000166.6:c.556G>A