Canonical Allele Identifier: PA1139716347
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 882688
ClinVar RCV Id: RCV001112561 RCV001112562 RCV001112563
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Ala96Gly
CA6904291
NM_004004.6:c.287C>G