ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913191511
Gene: COL4A3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000082.2:p.Val950Ile
CA2147040
NM_000091.5:c.2848G>A