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: PA2826215334

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 440658

ClinVar RCV Id: RCV000508854 RCV003409722

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182729.1:p.Lys413Asn	CA404089706 NM_001195800.2:c.1239A>C CA404089707 NM_001195800.2:c.1239A>T