Canonical Allele Identifier: PA261650
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 44752
ClinVar RCV Id: RCV000037855 RCV000211780 RCV000490112 RCV002490513
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Lys15Thr
CA261649
NM_004004.6:c.44A>C