Canonical Allele Identifier: PA915971684
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 637616
ClinVar RCV Id: RCV000789876 RCV001873223
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Thr86Ile
CA413501681
NM_001097642.3:c.257C>T