Canonical Allele Identifier: PA645377671
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251526

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Asp307His
CA10585196
NM_000527.5:c.919G>C
CA2695228128
NM_000527.5:c.918_919delinsCC