Canonical Allele Identifier: PA2826211570
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251211
ClinVar RCV Id: RCV000238588 RCV000807684
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Asp139Gly
CA10584909
NM_001195798.2:c.416A>G