This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.[Ser452_Val453del;Gly455_Val457del;Val459Trp;Asp461_Thr469delinsLeuSerLeu;Phe471del;Glu473_Lys477delinsIle;Ile481del]
CA16602330
NM_001195799.2:c.1355del