Canonical Allele Identifier: PA913197095
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 632210
ClinVar RCV Id: RCV000779131 RCV001112644 RCV001112645 RCV001193185
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Val13Met
CA6904329
NM_004004.6:c.37G>A