Canonical Allele Identifier: PA097696
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 246096
ClinVar RCV Id: RCV000235814 RCV000466555 RCV000789226 RCV002450732
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Gln80Arg
CA10584637
NM_000166.6:c.239A>G