ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645446052
Gene: ABCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
364459
ClinVar RCV Id:
RCV000259304
RCV000370661
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005493.2:p.Lys166Arg
CA5169375
NM_005502.4:c.497A>G