Canonical Allele Identifier: PA097892
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 245724
ClinVar RCV Id: RCV000236380 RCV000789853 RCV001854850
ClinVar Variation Id: 637647
ClinVar RCV Id: RCV000789911
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.His94Gln
CA10584638
NM_000166.6:c.282C>A
CA413501765
NM_000166.6:c.282C>G