Canonical Allele Identifier: PA658831332
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 551991
ClinVar RCV Id: RCV000667174
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Phe106Leu
CA6904282
NM_004004.6:c.318C>A
CA387461401
NM_004004.6:c.318C>G
CA387461406
NM_004004.6:c.316T>C