Canonical Allele Identifier: PA2825077829
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1685849
ClinVar RCV Id: RCV002250016
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Leu165Gln
CA413502774
NM_000166.6:c.494T>A