Canonical Allele Identifier: PA2826213243
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2701718
ClinVar RCV Id: RCV003582255
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Val427_Ile428del
CA2697556257
NM_001195799.2:c.1279_1284del