Canonical Allele Identifier: PA2573083494
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1319975
ClinVar RCV Id: RCV001775052
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Phe83del
CA2573053787
NM_004004.6:c.247_249del