ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA120480
Gene: ABCA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000010094
ClinVar Variation:
9486
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005493.2:p.Leu694del
CA120479
NM_005502.4:c.2080_2082del