ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139713080
Gene: ABCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
914473
ClinVar RCV Id:
RCV001168646
RCV001168647
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005493.2:p.Ile546Val
CA5168963
NM_005502.4:c.1636A>G