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: PA2826214884

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 225182

ClinVar RCV Id: RCV000210833 RCV001181607

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182729.1:p.Glu250Lys	CA358781 NM_001195800.2:c.748G>A