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: PA2826216887

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1171903

ClinVar RCV Id: RCV001525356 RCV002495842

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182732.1:p.Val400Ile	CA034912 NM_001195803.2:c.1198G>A