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: PA2826215571

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252168

ClinVar RCV Id: RCV000238432 RCV003417848

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182729.1:p.Cys499Trp	CA10585726 NM_001195800.2:c.1497T>G