Canonical Allele Identifier: PA180673
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 177736
ClinVar RCV Id: RCV000154346 RCV000299050 RCV000404295 RCV000668216 RCV000724444
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Arg165Trp
CA180672
NM_004004.6:c.493C>T