Canonical Allele Identifier: PA098177
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 543925
ClinVar RCV Id: RCV000654848 RCV000789818 RCV002248849 RCV003482294
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Lys187Glu
CA413503167
NM_000166.6:c.559A>G