Canonical Allele Identifier: PA2826212408
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251321
ClinVar RCV Id: RCV000238584
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Cys163Ser
CA10585011
NM_001195799.2:c.488G>C
CA404077803
NM_001195799.2:c.487T>A