Canonical Allele Identifier: PA2830122567
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 2578351
ClinVar RCV Id: RCV003326077
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_277042.1:p.Gln466_Ter467insArgGluGlnTrpProGlnAlaGlnGlyGlyCysHisSerProThrAlaProArgLeuHisGlyGluValLeuProThrArgAlaArgSerLeuAlaGlyGlnGluAlaTrpProCysGlnAspProGlyArgLeuProTyrArgTrpGlyThrGluArgAlaSerSerLeuSerPheSerValGlyGlnProGlnGlyProAsnGlyGlyAlaAlaGlyAlaGlyThrGluThrLeuGluAlaProHisLeuSerArgTrpAsnGlnPheProArgArgGluLeuLeuThrGlnAspPheAspAlaPheProHisCysGlnSerCysTrpProArgLeuGlyProGlySerGlyLysGlyCysProLeuAspProAlaValAlaSerLeuProTrpGluLeuIleLeuCysGlyGluAlaAlaProThrAla
CA367396721
NM_033507.3:c.1399T>C
CA367396723
NM_033507.3:c.1399T>A