Canonical Allele Identifier: PA2499265346
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1210417
ClinVar RCV Id: RCV001580713
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Asp117Tyr
CA387461330
NM_004004.6:c.349G>T