Canonical Allele Identifier: PA645385264
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 379889
ClinVar RCV Id: RCV000429597 RCV000988961 RCV001257044 RCV001420843
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Thr8Met
CA6904332
NM_004004.6:c.23C>T