Canonical Allele Identifier: PA241522
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 195204
ClinVar RCV Id: RCV000175760 RCV000587104 RCV000666278
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Arg127Leu
CA241521
NM_004004.6:c.380G>T