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: PA916001011

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 403664

ClinVar RCV Id: RCV000455987 RCV002526380

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Ile687Phe	CA16609819 NM_001195798.2:c.2059A>T