Canonical Allele Identifier: PA2573083501
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1185661
ClinVar RCV Id: RCV001823270
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Ala149Asp
CA387461130
NM_004004.6:c.446C>A