ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826877966
Gene: COL4A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001290039.1:p.Gly498Arg
CA257929
NM_001303110.2:c.1492G>C