Canonical Allele Identifier: PA134978
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 44755
ClinVar RCV Id: RCV000037858 RCV000329133 RCV000359564 RCV000501921 RCV000587337 RCV000674006 RCV001257159 RCV001563854 RCV004534807
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Gly160Ser
CA134977
NM_004004.6:c.478G>A