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: PA2826214965

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251792

ClinVar RCV Id: RCV000237729 RCV000494596 RCV000791422 RCV000844741 RCV002379064

ClinVar Variation Id: 251793

ClinVar RCV Id: RCV000238274 RCV001857827 RCV001699172

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Amino-acid Alleles

HGVS (amino-acid)	Transcript change
NP_001182729.1:p.Trp275Cys