Canonical Allele Identifier: PA2825524470
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2664449
ClinVar RCV Id: RCV003447409
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Cys283_Ter284insTrpCysHisIleProGlyAsnLeuProSerHisProArgProCysProGlyArgAlaProProSerProLeuProValHisArgProLeuProAlaGlyAspTyrSerIleLysThrPheLeuProTrpLeuLeuProPheLeuProGlyProSerPhe
CA413504554
NM_001097642.3:c.852A>G