Canonical Allele Identifier: PA2741907165
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2859053
ClinVar RCV Id: RCV003699682
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Leu28Val
CA387462043
NM_004004.6:c.82C>G