Canonical Allele Identifier: PA098675
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 637674
ClinVar RCV Id: RCV000789944 RCV001823165
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Thr86Ala
CA413501675
NM_000166.6:c.256A>G