Canonical Allele Identifier: PA2826211438
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 403629
ClinVar Variation Id: 440556
ClinVar RCV Id: RCV000508944

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Asp100Glu
CA16609802
NM_001195798.2:c.300C>A
CA404075813
NM_001195798.2:c.300C>G