Canonical Allele Identifier: PA1139682438
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 637594
ClinVar RCV Id: RCV000789847 RCV003447277
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Leu144del
CA915951200
NM_001097642.3:c.432_434del