ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645446095
Gene: ABCA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000311949
RCV000371215
RCV001509914
RCV002446620
ClinVar Variation:
364428
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005493.2:p.Val825Ile
CA5168723
NM_005502.4:c.2473G>A