Canonical Allele Identifier: PA333984
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 21084
ClinVar RCV Id: RCV000236824 RCV000167902 RCV000789234 RCV000020174
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Arg15Trp
CA333982
NM_001097642.3:c.43C>T