Canonical Allele Identifier: PA2573065224
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1329876
ClinVar RCV Id: RCV001800184
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Ala207Pro
CA413503312
NM_001097642.3:c.619G>C