Canonical Allele Identifier: PA645431154
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 430122
ClinVar RCV Id: RCV000493545 RCV000518090 RCV000789248 RCV001856974
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Ser50Pro
CA413501135
NM_001097642.3:c.148T>C