Canonical Allele Identifier: PA1139682637
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 847587
ClinVar RCV Id: RCV001051168
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Tyr211Cys
CA413503375
NM_001097642.3:c.632A>G