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: PA2826217162

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252097

ClinVar RCV Id: RCV000237415 RCV001042592 RCV002411102 RCV003477856

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182732.1:p.Ile497del	CA10585667 NM_001195803.2:c.1490_1492del