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: PA2826217254

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252143

ClinVar RCV Id: RCV000238331

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182732.1:p.Gln533Lys	CA10585705 NM_001195803.2:c.1597C>A