Canonical Allele Identifier: PA915998823
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 523724
ClinVar RCV Id: RCV000627178 RCV001376812
ClinVar Variation Id: 689346
ClinVar RCV Id: RCV000850042
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Glu228Asp
CA404079085
NM_001195798.2:c.684G>C
CA404079087
NM_001195798.2:c.684G>T