ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA103402
Gene: ABCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
9483
ClinVar RCV Id:
RCV000010091
RCV004532322
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005493.2:p.Cys1477Arg
CA120477
NM_005502.4:c.4429T>C