Canonical Allele Identifier: PA2826213218
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 440637
ClinVar RCV Id: RCV000508799 RCV000775067 RCV002223855 RCV002383989
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Leu415Pro
CA305300092
NM_001195799.2:c.1244T>C