Canonical Allele Identifier: PA645380229
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 403644

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Ser691Leu
CA038447
NM_000527.5:c.2072C>T