Canonical Allele Identifier: PA891852346
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 585322
ClinVar RCV Id: RCV000710320
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Val226Asp
CA387460663
NM_004004.6:c.677T>A