ClinGen Allele Registry
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Canonical Allele Identifier:
PA645446071
Gene: ABCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
364446
ClinVar RCV Id:
RCV000300129
RCV000404525
RCV000594571
RCV000779671
RCV002338956
RCV002467767
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005493.2:p.Val399Ala
CA5169077
NM_005502.4:c.1196T>C