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: PA2826215441

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 375824

ClinVar RCV Id: RCV001764352 RCV000417315 RCV002411283 RCV003226290

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182729.1:p.Val450Gly	CA16602338 NM_001195800.2:c.1349T>G