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: PA916000615

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 183124

ClinVar RCV Id: RCV000161999 RCV000237247

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.His583Asp	CA023564 NM_001195798.2:c.1747C>G