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.[Val509del;Ile511_Tyr512del;Leu514_Asn518del;Gln520_Leu527del;Leu529_Trp536del;Asp538_Val549del]
CA2573050609
NM_001195799.2:c.1526_1545del