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: PA2829840031

Gene: ABCA12 HGNC NCBI

Linked Data

ClinVar Variation Id: 2857

ClinVar RCV Id: RCV000002991 RCV003407261

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_056472.2:p.Arg1196His	CA252477 NM_015657.4:c.3587G>A