Canonical Allele Identifier: PA172233
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 44749
ClinVar RCV Id: RCV000037851 RCV000146022 RCV000289146 RCV000255015 RCV000409236 RCV000515309 RCV000678884 RCV001004388 RCV001109787 RCV001844020
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Ser139Asn
CA172232
NM_004004.6:c.416G>A