Canonical Allele Identifier: PA261648
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 44750
ClinVar RCV Id: RCV000037852
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Phe142Leu
CA261647
NM_004004.6:c.426C>A
CA387461170
NM_004004.6:c.426C>G
CA387461175
NM_004004.6:c.424T>C