Canonical Allele Identifier: PA2825078044
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2702792
ClinVar RCV Id: RCV003582278
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Thr191Asn
CA413503206
NM_000166.6:c.572C>A