Canonical Allele Identifier: PA134965
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 44743
ClinVar RCV Id: RCV000037845 RCV000281969 RCV000331479 RCV000590041 RCV000785600 RCV002477096
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Thr123Asn
CA134964
NM_004004.6:c.368C>A