Canonical Allele Identifier: PA2826216104
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 161287
ClinVar RCV Id: RCV000172959 RCV000162020 RCV000791360 RCV000844745 RCV002051680 RCV002408658
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Asp139Glu
CA023765
NM_001195803.2:c.417T>A
CA404080145
NM_001195803.2:c.417T>G