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: PA916000744

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252084

ClinVar RCV Id: RCV000237536 RCV001854906

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Phe619Ser	CA10585655 NM_001195798.2:c.1856T>C