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: PA2826215618

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252193

ClinVar RCV Id: RCV000238125

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182729.1:p.Pro517Thr	CA10585747 NM_001195800.2:c.1549C>A