Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA645446095

Gene: ABCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 364428

ClinVar RCV Id: RCV000311949 RCV000371215 RCV001509914 RCV002446620

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_005493.2:p.Val825Ile	CA5168723 NM_005502.4:c.2473G>A