Canonical Allele Identifier: PA915998838
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 403633
ClinVar RCV Id: RCV000454717 RCV002230305 RCV002365581
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Glu228_Cys231del
CA16609807
NM_001195798.2:c.683_694del