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: PA2826216140

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 183097

ClinVar RCV Id: RCV000161968 RCV000210246 RCV000610848 RCV000776470 RCV002426795 RCV003927530

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182732.1:p.Glu150Lys	CA023775 NM_001195803.2:c.448G>A