Canonical Allele Identifier: PA916000585
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252009
ClinVar RCV Id: RCV000237863
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Asp579Glu
CA10585592
NM_001195798.2:c.1737C>G
CA404089696
NM_001195798.2:c.1737C>A