Canonical Allele Identifier: PA645385570
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 437829
ClinVar RCV Id: RCV000499451
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Leu89Phe
CA6904293
NM_004004.6:c.265C>T