Canonical Allele Identifier: PA891852240
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 585740
ClinVar RCV Id: RCV000711352
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Thr18Ser
CA387462150
NM_004004.6:c.53C>G
CA387462153
NM_004004.6:c.52A>T