Canonical Allele Identifier: PA134988
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 44759
ClinVar RCV Id: RCV000037864 RCV001831653
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Thr189Asn
CA134987
NM_004004.6:c.566C>A