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: PA2826213318

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 161285

ClinVar RCV Id: RCV000161989 RCV000237459 RCV000590270 RCV002051678 RCV002390312

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182728.1:p.Asp451Asn	CA023512 NM_001195799.2:c.1351G>A