ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645446100
Gene: ABCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
225290
ClinVar RCV Id:
RCV000490356
RCV001166856
RCV001166857
RCV001753634
RCV004020581
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005493.2:p.Cys887Phe
CA5168663
NM_005502.4:c.2660G>T