Canonical Allele Identifier: PA2499237701
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1017888
ClinVar RCV Id: RCV001317110
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Leu115Pro
CA413501963
NM_001097642.3:c.344T>C