Canonical Allele Identifier: PA2826212986
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 375808
ClinVar RCV Id: RCV000417353

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Cys338Gly
CA16602323
NM_001195799.2:c.1012T>G