ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645446072
Gene: ABCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
364445
ClinVar RCV Id:
RCV000280068
RCV000335034
RCV000588564
RCV002392922
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005493.2:p.Arg496Trp
CA5169008
NM_005502.4:c.1486C>T