Canonical Allele Identifier: PA2580282812
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1806861
ClinVar RCV Id: RCV002474290
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Glu47Lys
CA387461835
NM_004004.6:c.139G>A