Canonical Allele Identifier: PA1139682641
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 837766
ClinVar RCV Id: RCV001039171
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Leu212Arg
CA413503391
NM_001097642.3:c.635T>G