ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645421557
Gene: COL4A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
427770
ClinVar RCV Id:
RCV000490752
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000082.2:p.Gly392Glu
CA350868720
NM_000091.5:c.1175G>A