Canonical Allele Identifier: PA916000161
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 161284
ClinVar RCV Id: RCV000172963 RCV000414235 RCV000775070 RCV002051677 RCV002390311
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Asp482Asn
CA023502
NM_001195798.2:c.1444G>A