ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658664153
Gene: COL4A4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
447194
ClinVar RCV Id:
RCV001089929
RCV000518682
RCV001141059
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000083.3:p.Arg227His
CA2145498
NM_000092.5:c.680G>A