Canonical Allele Identifier: PA113238
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 17018
ClinVar RCV Id: RCV000018544 RCV001659701
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Cys202Phe
CA257678
NM_004004.6:c.605G>T