Canonical Allele Identifier: PA172225
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 44740
ClinVar RCV Id: RCV000037839 RCV000080371 RCV000146017 RCV000411497 RCV000410006 RCV000678859 RCV000762906 RCV000844703 RCV001004399 RCV002247424 RCV003224797 RCV003488357
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Gly12Cys
CA172224
NM_004004.6:c.34G>T