Canonical Allele Identifier: PA172207
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 17000
ClinVar RCV Id: RCV000018523 RCV000080364 RCV000211758 RCV000487479 RCV000678866 RCV000844701 RCV001027827 RCV001004397 RCV001270137 RCV001266565 RCV001375142 RCV002251910 RCV003322590
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Met34Thr
CA172206
NM_004004.6:c.101T>C