Canonical Allele Identifier: PA134984
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 44757
ClinVar RCV Id: RCV000037861 RCV000665938 RCV000991849
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Val167Met
CA134983
NM_004004.6:c.499G>A