Canonical Allele Identifier: PA915971642
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 637604
ClinVar RCV Id: RCV000789863 RCV000803734 RCV002422675
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Pro70Ser
CA413501479
NM_001097642.3:c.208C>T