Canonical Allele Identifier: PA645431222
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 245705
ClinVar RCV Id: RCV000235289 RCV000804182 RCV000789192 RCV002272191
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Val181Met
CA10584643
NM_001097642.3:c.541G>A