Canonical Allele Identifier: PA2830127234
Gene: COL4A6 HGNC NCBI

Linked Data

ClinVar Variation Id: 191253
ClinVar RCV Id: RCV000171443 RCV003965228
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_378667.1:p.Leu1690_Ter1691insGluGlyGlyThrCysHisSerAlaProCysProProLeuProLeuThrThrValThrSerGlnThr
CA236362
NM_033641.4:c.5071T>G