ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573246387
Gene: ABCA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005493.2:p.Lys2040Glu
CA5167628
NM_005502.4:c.6118A>G