Canonical Allele Identifier: PA2826213949
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3074846
ClinVar RCV Id: RCV004014380

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Val690Ile
CA404094934
NM_001195799.2:c.2068G>A