Canonical Allele Identifier: PA891865382
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 590799
ClinVar RCV Id: RCV000721943 RCV001004778
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Trp172Cys
CA387460989
NM_004004.6:c.516G>T
CA387460990
NM_004004.6:c.516G>C