Canonical Allele Identifier: PA340975
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 10446
ClinVar RCV Id: RCV000486043 RCV000789872 RCV001851787 RCV000011191
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Thr55Ile
CA340973
NM_001097642.3:c.164C>T