Canonical Allele Identifier: PA253529
Gene: GJB6 HGNC NCBI

Linked Data

ClinVar Variation Id: 5545
ClinVar RCV Id: RCV000005883 RCV000798432 RCV002504751
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_006774.2:p.Ala88Val
CA253528
NM_006783.5:c.263C>T