Canonical Allele Identifier: PA2499241679
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1199380
ClinVar RCV Id: RCV001564009
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Ala348Val
CA404082834
NM_001195798.2:c.1043C>T