Canonical Allele Identifier: PA915971466
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 637613
ClinVar RCV Id: RCV000789873
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.His16Gln
CA413499547
NM_001097642.3:c.48T>G
CA413499550
NM_001097642.3:c.48T>A