Canonical Allele Identifier: PA2580140382
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2124501
ClinVar RCV Id: RCV003039646
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Gln80His
CA413501625
NM_001097642.3:c.240G>C
CA413501626
NM_001097642.3:c.240G>T