Canonical Allele Identifier: PA658831314
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 554857
ClinVar RCV Id: RCV000670560
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Val52Leu
CA6904310
NM_004004.6:c.154G>C