ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645446115
Gene: ABCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
364419
ClinVar RCV Id:
RCV000271776
RCV000331552
RCV002058756
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005493.2:p.Val1096Ile
CA5168472
NM_005502.4:c.3286G>A