ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645423725
Gene: COL4A6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001838.2:p.Leu1691_Leu1692insGlu
NM_001847.4:c.5074T>G