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This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
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Gene: COL4A5
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
ENSP00000331902.6:p.Gly1232Ser
ENST00000328300.10:c.[3689dup;3691C=;3693...
ENST00000328300.10:c.[3689dup;3693T>A;369...
ENST00000328300.10:c.3694G>A