Canonical Allele Identifier: PA916001126
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252243
ClinVar RCV Id: RCV000238066
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Val719Leu
CA10585794
NM_001195798.2:c.2155G>C
CA404094785
NM_001195798.2:c.2155G>T