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: PA2826214232

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251013

ClinVar RCV Id: RCV000237765 RCV000775021 RCV002307470

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182729.1:p.Glu31Lys	CA041752 NM_001195800.2:c.91G>A