ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580331108
Gene: ABCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1694005
ClinVar RCV Id:
RCV002261874
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005493.2:p.Pro85Ser
CA374316311
NM_005502.4:c.253C>T