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: PA915999844

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 161276

ClinVar RCV Id: RCV000211581 RCV000519267 RCV000775060 RCV002051669 RCV002362782

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Thr413Met	CA023439 NM_001195798.2:c.1238C>T