ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA103426
Gene: ABCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
9485
ClinVar RCV Id:
RCV000010093
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005493.2:p.Gln597Arg
CA120478
NM_005502.4:c.1790A>G