Canonical Allele Identifier: PA2499241775
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Glu228delinsGlyMetAspCysLys
CA2499225314
NM_001195798.2:c.682_683insGTATGGACTGCA