ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580331175
Gene: ABCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2068252
ClinVar RCV Id:
RCV002971021
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005493.2:p.Glu529Lys
CA374324901
NM_005502.4:c.1585G>A