Canonical Allele Identifier: PA2580282772
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2070085
ClinVar RCV Id: RCV002966866 RCV003315266
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Met1Ile
CA387462298
NM_004004.6:c.3G>T
CA387462300
NM_004004.6:c.3G>C
CA387462302
NM_004004.6:c.3G>A