ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573102288
Gene: ABCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1341718
ClinVar RCV Id:
RCV001837198
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_997698.1:p.Tyr2042His
CA5353785
NM_212533.3:c.6124T>C