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: PA916000950

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252173

ClinVar RCV Id: RCV000238136 RCV000810496 RCV002418062

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Gly675Ser	CA038175 NM_001195798.2:c.2023G>A