Canonical Allele Identifier: PA097970
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 10436
ClinVar RCV Id: RCV000011181
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Ile30Asn
CA255242
NM_000166.6:c.89T>A