Canonical Allele Identifier: PA658663676
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 447427
ClinVar RCV Id: RCV000516335 RCV000654839 RCV000789852
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Gly59Arg
CA413501278
NM_001097642.3:c.175G>C