ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA103467
Gene: ABCA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000010110
ClinVar Variation:
9502
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005493.2:p.Phe2009Ser
CA120490
NM_005502.4:c.6026T>C