Canonical Allele Identifier: PA2825078050
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 570711
ClinVar RCV Id: RCV000691640
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Phe190_Thr191insIle
CA891844222
NM_000166.6:c.569_571dup