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_001182732.1:p.[Val423del;Ile425_Tyr426del;Leu428_Asn432del;Gln434_Leu441del;Leu443_Trp450del;Asp452_Val463del]
CA2573050609
NM_001195803.2:c.1268_1287del