Canonical Allele Identifier: PA915998363
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251228
ClinVar RCV Id: RCV000237527
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Cys148Trp
CA10584923
NM_001195798.2:c.444T>G