Canonical Allele Identifier: PA097335
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 543920
ClinVar RCV Id: RCV000654841 RCV000789839 RCV001310733 RCV001814206 RCV002343392 RCV002289943
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Arg164Gln
CA413502758
NM_000166.6:c.491G>A