Canonical Allele Identifier: PA2826214621
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3013238
ClinVar RCV Id: RCV003870333
ClinVar Variation Id: 3075220
ClinVar RCV Id: RCV004015746

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Glu169Asp
CA404082731
NM_001195800.2:c.507G>C
CA404082732
NM_001195800.2:c.507G>T