Canonical Allele Identifier: PA915999697
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251693
ClinVar RCV Id: RCV000238278 RCV002519846
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Asp386Glu
CA10585332
NM_001195798.2:c.1158C>G
CA404083825
NM_001195798.2:c.1158C>A