Canonical Allele Identifier: PA103310
Gene: ABCA1 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_005493.2:p.Arg2081Trp
CA120485
NM_005502.4:c.6241C>T