Canonical Allele Identifier: PA098733
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 637675
ClinVar RCV Id: RCV000789945 RCV001053372
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Trp133Cys
CA413502191
NM_000166.6:c.399G>C
CA413502192
NM_000166.6:c.399G>T