Canonical Allele Identifier: PA915998700
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 375788
ClinVar RCV Id: RCV000417271

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Cys222_Asp227del
CA16602305
NM_001195798.2:c.664_681del