ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830127234
Gene: COL4A6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_378667.1:p.Leu1690_Ter1691insGluGlyGlyThrCysHisSerAlaProCysProProLeuProLeuThrThrValThrSerGlnThr
CA236362
NM_033641.4:c.5071T>G