Canonical Allele Identifier: PA2826217161
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 369855
ClinVar RCV Id: RCV000408811 RCV000816915 RCV001770290 RCV002411268
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Ile496Thr
CA037264
NM_001195803.2:c.1487T>C