ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826877967
Gene: COL4A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
449496
ClinVar RCV Id:
RCV000523396
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001290039.1:p.Gly498Asp
CA388723400
NM_001303110.2:c.1493G>A