Canonical Allele Identifier: PA097508
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 217167
ClinVar RCV Id: RCV000201183 RCV000691748 RCV001276388 RCV001567461
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Arg75Gln
CA279107
NM_000166.6:c.224G>A