Canonical Allele Identifier: PA255231
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 10431
ClinVar RCV Id: RCV000011176 RCV000236641 RCV000474456
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Arg142Trp
CA255229
NM_001097642.3:c.424C>T