Canonical Allele Identifier: PA097283
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 188174
ClinVar RCV Id: RCV000168077 RCV000714874 RCV000714875 RCV000789950 RCV001657932 RCV002515186
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Arg142Gln
CA334230
NM_000166.6:c.425G>A