ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645499695
Gene: COL4A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
422462
ClinVar RCV Id:
RCV000480532
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001836.3:p.Pro1286His
CA16619610
NM_001845.6:c.3857C>A