Canonical Allele Identifier: PA098985
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 477602
ClinVar RCV Id: RCV000558127 RCV000789820 RCV002350395 RCV002483509
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Val189Ile
CA10445316
NM_000166.6:c.565G>A