ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645446147
Gene: ABCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
364394
ClinVar RCV Id:
RCV000340403
RCV000590457
RCV000396628
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005493.2:p.Arg1680Gln
CA5167954
NM_005502.4:c.5039G>A