Canonical Allele Identifier: PA916000265
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251882
ClinVar RCV Id: RCV000238472
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Lys507Glu
CA10585489
NM_001195798.2:c.1519A>G