ClinGen Allele Registry
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Canonical Allele Identifier:
PA645421540
Gene: COL4A3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000082.2:p.Gly43Arg
CA2145910
NM_000091.5:c.127G>C
CA2145912
NM_000091.5:c.127G>A
CA2825001094
NM_000091.5:c.127_129delinsCGA