Canonical Allele Identifier: PA180701
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 177751
ClinVar RCV Id: RCV000154364 RCV000711348 RCV000765115 RCV001271875
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Val63Ala
CA180700
NM_004004.6:c.188T>C