ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658665165
Gene: COL4A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
447213
ClinVar RCV Id:
RCV000516296
RCV002506250
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_203699.1:p.Gly171Arg
CA413920951
NM_033380.3:c.511G>C