ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA103322
Gene: ABCA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000288241
RCV000402915
RCV001517126
RCV002374604
RCV004544708
ClinVar Variation:
364456
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005493.2:p.Arg230Cys
CA5169322
NM_005502.4:c.688C>T