Canonical Allele Identifier: PA279086
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 217169
ClinVar RCV Id: RCV000235929 RCV000234336 RCV003447516 RCV002327051
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Arg15Gln
CA279084
NM_001097642.3:c.44G>A