Canonical Allele Identifier: PA658802685
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 543926
ClinVar RCV Id: RCV000654850 RCV000789228
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Trp3Ser
CA413499286
NM_001097642.3:c.8G>C