Canonical Allele Identifier: PA2741841719
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2773525
ClinVar RCV Id: RCV003582124 RCV004011489
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Lys730Asn
CA404094925
NM_001195798.2:c.2190G>C
CA404094928
NM_001195798.2:c.2190G>T