Canonical Allele Identifier: PA1139685323
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 920704
ClinVar RCV Id: RCV001179615 RCV002223995 RCV002402537 RCV004006583
ClinVar Variation Id: 1171902
ClinVar RCV Id: RCV001525355 RCV001806219 RCV004008839
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Asp525Glu
CA034873
NM_001195798.2:c.1575T>A
CA404086607
NM_001195798.2:c.1575T>G