Canonical Allele Identifier: PA2826212472
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3733
ClinVar RCV Id: RCV000003931 RCV001201377 RCV003457636
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Cys181_Asp186dup
CA250482
NM_001195799.2:c.541_558dup