Canonical Allele Identifier: PA2580170700
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1784801
ClinVar RCV Id: RCV002419830
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Gln678His
CA305302735
NM_001195798.2:c.2034G>T
CA404093579
NM_001195798.2:c.2034G>C