Canonical Allele Identifier: PA134954
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 44731
ClinVar RCV Id: RCV000037824 RCV001836634 RCV001252671 RCV001852792
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Leu76Pro
CA134953
NM_004004.6:c.227T>C