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: PA250462

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3695

ClinVar RCV Id: RCV000003883 RCV000985760 RCV000806811 RCV002381240 RCV004017226

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Ala431Thr	CA023445 NM_000527.5:c.1291G>A