Canonical Allele Identifier: PA134986
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 44758
ClinVar RCV Id: RCV000037862 RCV000505525 RCV002513485
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Ala171Thr
CA134985
NM_004004.6:c.511G>A