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: PA916000760

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252096

ClinVar RCV Id: RCV000238541 RCV000426889 RCV000771171 RCV002411101

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Ile623Val	CA037254 NM_001195798.2:c.1867A>G