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: PA2826212940

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251658

ClinVar RCV Id: RCV000238443

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182728.1:p.Cys323Ser	CA10585299 NM_001195799.2:c.968G>C CA404083282 NM_001195799.2:c.967T>A