Canonical Allele Identifier: PA645509981
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 438615
ClinVar RCV Id: RCV000505534 RCV001112642 RCV001112643 RCV001857232
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Ile20Met
CA6904326
NM_004004.6:c.60T>G