Canonical Allele Identifier: PA255247
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 10437
ClinVar RCV Id: RCV000256065 RCV000463876 RCV002326674 RCV000011182
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Leu156Arg
CA255245
NM_001097642.3:c.467T>G