Canonical Allele Identifier: PA2826213008
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1677867
ClinVar RCV Id: RCV002223548 RCV003093880
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.His347_Ala350del
CA2573050596
NM_001195799.2:c.1039_1050del