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: PA2826216526

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 183109

ClinVar RCV Id: RCV000161981 RCV000237472 RCV001211912 RCV001800473 RCV002336376

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182732.1:p.Ala272Thr	CA023430 NM_001195803.2:c.814G>A