Canonical Allele Identifier: PA2573178593
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 637251
ClinVar RCV Id: RCV000789323 RCV003447228
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Thr191_Val192insSer
CA915951213
NM_001097642.3:c.573_574insTCA