ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829325845
Gene: COL4A6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001838.2:p.Leu1691_Ter1692insGluGlyGlyThrCysHisSerAlaProCysProProLeuProLeuThrThrValThrSerGlnThr
CA236362
NM_001847.4:c.5074T>G