Canonical Allele Identifier: PA916000678
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 440663
ClinVar RCV Id: RCV000508835 RCV001865664 RCV002413393
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Ala606Asp
CA404089836
NM_001195798.2:c.1817C>A