Canonical Allele Identifier: PA658663670
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 477589
ClinVar RCV Id: RCV000011192 RCV000538846
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Thr55_Asn61dup
CA658659008
NM_001097642.3:c.164_184dup