Canonical Allele Identifier: PA2826212485
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 977984
ClinVar RCV Id: RCV001255936
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Asp183_Lys184dup
CA1139666255
NM_001195799.2:c.547_552dup