Canonical Allele Identifier: PA645446180
Gene: ABCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 364377
ClinVar RCV Id: RCV000268613 RCV000321342 RCV000879754 RCV001255586 RCV002365431
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_005493.2:p.Asp2243Glu
CA5167475
NM_005502.4:c.6729C>A
CA374310808
NM_005502.4:c.6729C>G