Canonical Allele Identifier: PA2826211566
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251212
ClinVar RCV Id: RCV000237650
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Asp139Val
CA10584910
NM_001195798.2:c.416A>T