Canonical Allele Identifier: PA275059
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 195025
ClinVar RCV Id: RCV000175537 RCV000461635 RCV001249761
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Val91Met
CA275057
NM_001097642.3:c.271G>A