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: PA2826215545

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252138

ClinVar RCV Id: RCV000237122

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182729.1:p.Leu490Pro	CA10585702 NM_001195800.2:c.1469T>C