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: PA916000756

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252092

ClinVar RCV Id: RCV000238037 RCV000812951

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Asp622Asn	CA10585663 NM_001195798.2:c.1864G>A