Canonical Allele Identifier: PA891861126
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 580173
ClinVar RCV Id: RCV000703637
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Met150Arg
CA413502528
NM_001097642.3:c.449T>G