Canonical Allele Identifier: PA2825077305
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 995076
ClinVar RCV Id: RCV001288929 RCV002451645
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Leu90Ile
CA413501712
NM_000166.6:c.268C>A