ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA095290
Gene: COL4A5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000486.1:p.Glu633Lys
CA258569
NM_000495.4:c.1897G>A