Canonical Allele Identifier: PA915999094
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 666834
ClinVar RCV Id: RCV000825342 RCV002251522
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.His94Tyr
CA387461482
NM_004004.6:c.280C>T