Canonical Allele Identifier: PA2825078088
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1013723
ClinVar RCV Id: RCV001312350
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Leu195Gln
CA413503232
NM_000166.6:c.584T>A