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: PA2826213840

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1785078

ClinVar RCV Id: RCV002421827 RCV004007394

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182728.1:p.Ala643Val	CA404093668 NM_001195799.2:c.1928C>T