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: PA2826213137

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 226353

ClinVar RCV Id: RCV000211588

ClinVar Variation Id: 251767

ClinVar RCV Id: RCV000238117 RCV002519847

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182728.1:p.Val388Leu	CA10576303 NM_001195799.2:c.1162G>C CA10585386 NM_001195799.2:c.1162G>T