ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580488712
Gene: COL4A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1711716
ClinVar RCV Id:
RCV002293230
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_203699.1:p.Gly588Ser
CA413845552
NM_033380.3:c.1762G>A