Canonical Allele Identifier: PA2826212845
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3013238
ClinVar RCV Id: RCV003870333
ClinVar Variation Id: 3075220
ClinVar RCV Id: RCV004015746
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Glu296Asp
CA404082731
NM_001195799.2:c.888G>C
CA404082732
NM_001195799.2:c.888G>T