Canonical Allele Identifier: PA255253
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 10439
ClinVar RCV Id: RCV000011184
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Val13Leu
CA255251
NM_001097642.3:c.37G>T
CA413499475
NM_001097642.3:c.37G>C