Canonical Allele Identifier: PA340972
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 10442
ClinVar RCV Id: RCV000011187 RCV000991856 RCV000537008
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Asn205Ser
CA340970
NM_001097642.3:c.614A>G