Canonical Allele Identifier: PA113406
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 17003
ClinVar RCV Id: RCV000018526 RCV000080368 RCV000211765 RCV000412297 RCV001004394 RCV001257039 RCV001526518 RCV002496399 RCV004532383
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Trp77Arg
CA222246
NM_004004.6:c.229T>C
CA387461579
NM_004004.6:c.229T>A