Canonical Allele Identifier: PA2826213520
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 889250
ClinVar RCV Id: RCV001123062
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Asp528Glu
CA404089617
NM_001195799.2:c.1584T>A
CA404089619
NM_001195799.2:c.1584T>G