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: PA915999979

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251780

ClinVar RCV Id: RCV000237548 RCV001523920 RCV003477855

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Asn439Lys	CA10585397 NM_001195798.2:c.1317T>G CA404085149 NM_001195798.2:c.1317T>A