Canonical Allele Identifier: PA279063
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 217168
ClinVar RCV Id: RCV000201004 RCV001044069 RCV002274941
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Arg107Trp
CA279061
NM_001097642.3:c.319C>T