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: PA2826216386

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251642

ClinVar RCV Id: RCV000237653 RCV001523919

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182732.1:p.Ile228Val	CA10585285 NM_001195803.2:c.682A>G