Canonical Allele Identifier: PA121073
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 10451
ClinVar RCV Id: RCV000011196 RCV000011197
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Val136Ala
CA121071
NM_001097642.3:c.407T>C