ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139713407
Gene: ABCA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005493.2:p.Ala2028Val
CA5167633
NM_005502.4:c.6083C>T