ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499295006
Gene: COL4A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1129560
ClinVar RCV Id:
RCV001462770
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_203699.1:p.Ser996Asn
CA10489008
NM_033380.3:c.2987G>A