ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645446133
Gene: ABCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
364404
ClinVar RCV Id:
RCV000350460
RCV000397059
RCV002328885
RCV003718227
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005493.2:p.Thr1399Ser
CA5168206
NM_005502.4:c.4195A>T