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: PA916000340

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251902

ClinVar RCV Id: RCV000238555 RCV003298317 RCV003581628

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Asp525Val	CA10585507 NM_001195798.2:c.1574A>T