Canonical Allele Identifier: PA2829325845
Gene: COL4A6 HGNC NCBI

Linked Data

ClinVar Variation Id: 191253
ClinVar RCV Id: RCV000171443 RCV003965228
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001838.2:p.Leu1691_Ter1692insGluGlyGlyThrCysHisSerAlaProCysProProLeuProLeuThrThrValThrSerGlnThr
CA236362
NM_001847.4:c.5074T>G