Canonical Allele Identifier: PA349247
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 219704
ClinVar RCV Id: RCV000205076 RCV000236627 RCV002466254
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Arg215Pro
CA349245
NM_001097642.3:c.644G>C