ClinGen Allele Registry
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Canonical Allele Identifier:
PA120496
Gene: ABCA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000010114
RCV000310562
RCV000367106
RCV001512056
RCV002362575
ClinVar Variation:
9506
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005493.2:p.Arg219Lys
CA120495
NM_005502.4:c.656G>A