ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645446126
Gene: ABCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
364414
ClinVar RCV Id:
RCV000336016
RCV000404479
RCV000779670
RCV001093094
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005493.2:p.Ala1182Thr
CA5168396
NM_005502.4:c.3544G>A