Canonical Allele Identifier: PA658664314
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 449490
ClinVar RCV Id: RCV000520583 RCV000826112 RCV000855645 RCV001252676
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Val37Ala
CA6904317
NM_004004.6:c.110T>C