Canonical Allele Identifier: PA113378
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 631697
ClinVar RCV Id: RCV000778387 RCV001113900 RCV001113901 RCV001374648 RCV001784383 RCV003317365
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Thr86Arg
CA387461527
NM_004004.6:c.257C>G