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: PA915963618

Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 375860

ClinVar RCV Id: RCV000417290 RCV000489633 RCV001138597 RCV001138596 RCV001837892

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000375.3:p.Asp550His	CA054315 NM_000384.3:c.1648G>C