Canonical Allele Identifier: PA2580282787
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1924123
ClinVar RCV Id: RCV002634742
ClinVar Variation Id: 3233602
ClinVar RCV Id: RCV004526452
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Ser19Ile
CA6904327
NM_004004.6:c.56G>T
CA2825002101
NM_004004.6:c.56_57delinsTT