Canonical Allele Identifier: PA658699458
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 496220
ClinVar RCV Id: RCV000590488 RCV001829629
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Phe142Ser
CA6904271
NM_004004.6:c.425T>C