Canonical Allele Identifier: PA915972061
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 637579
ClinVar RCV Id: RCV000789827 RCV003447275
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Thr185del
CA915951210
NM_001097642.3:c.553_555del