Canonical Allele Identifier: PA2825180931
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 923754
ClinVar RCV Id: RCV001184678

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Arg709del
CA1139666245
NM_000527.5:c.2127_2129del