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: PA2825180160

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2971852

ClinVar RCV Id: RCV003832914

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Leu571del	CA036098 NM_000527.5:c.1711_1713del