Canonical Allele Identifier: PA2499237696
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1004038
ClinVar RCV Id: RCV001300676 RCV001328477
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.His73Arg
CA413501540
NM_001097642.3:c.218A>G