Canonical Allele Identifier: PA645379666
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252057
ClinVar RCV Id: RCV000238494

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Leu611_Val613del
CA10585639
NM_000527.5:c.1833_1841del