ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580258886
Gene: COL4A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2149597
ClinVar RCV Id:
RCV003083206
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001836.3:p.Ala1230Gly
CA256251549
NM_001845.6:c.3689C>G