ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA103310
Gene: ABCA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
24533
ClinVar RCV:
RCV000010102
ClinVar Variation:
9494
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005493.2:p.Arg2081Trp
CA120485
NM_005502.4:c.6241C>T