Canonical Allele Identifier: PA2580282902
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1989144
ClinVar RCV Id: RCV002786359
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Ile145del
CA246460156
NM_004004.6:c.433_435del