ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645446081
Gene: ABCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
364439
ClinVar RCV Id:
RCV000265669
RCV000355736
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005493.2:p.Arg666Trp
CA5168846
NM_005502.4:c.1996C>T