ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3066504418
Gene: COL4A3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000082.2:p.Glu162Val
CA350863488
NM_000091.5:c.485A>T