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: PA235453

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 183121

ClinVar RCV Id: RCV000161995 RCV001183446 RCV002478493

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Val527Ala	CA023535 NM_000527.5:c.1580T>C