Canonical Allele Identifier: PA645376971
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 403633

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Glu228_Cys231del
CA16609807
NM_000527.5:c.683_694del