Canonical Allele Identifier: PA2826212305
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 224617
ClinVar RCV Id: RCV000211593 RCV001190232 RCV004526645
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Asp129Asn
CA043768
NM_001195799.2:c.385G>A