Canonical Allele Identifier: PA113440
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 17032
ClinVar RCV Id: RCV000018560 RCV000211770 RCV000146012 RCV001041795 RCV002504805 RCV001257042 RCV003335046
ClinVar Variation Id: 167134
ClinVar RCV Id: RCV000169112 RCV000505951 RCV000790715
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Val84Leu
CA172218
NM_004004.6:c.250G>C
CA234087
NM_004004.6:c.250G>T