Canonical Allele Identifier: PA916000997
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3702
ClinVar RCV Id: RCV000003891 RCV000162007 RCV000775085 RCV000844731 RCV002415395
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Pro685Leu
CA023628
NM_001195798.2:c.2054C>T