ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658808848
Gene: ABCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
521460
ClinVar RCV Id:
RCV001509358
RCV003336095
RCV000622845
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005493.2:p.Gly1346Glu
CA5168267
NM_005502.4:c.4037G>A