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: PA2580164529

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1705273

ClinVar RCV Id: RCV002283590

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Asp433Val	CA404085025 NM_001195798.2:c.1298A>T