Canonical Allele Identifier: PA645385452
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 424853
ClinVar RCV Id: RCV000487476
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Pro58Ala
CA16621539
NM_004004.6:c.172C>G