Canonical Allele Identifier: PA915971643
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 637606
ClinVar RCV Id: RCV000789865 RCV003447282
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Pro70Phe
CA915951185
NM_001097642.3:c.208_209delinsTT