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
ENSP00000453513.2:p.[Val510del;Ile512_Tyr513del;Leu515_Asn519del;Gln521_Leu528del;Leu530_Trp537del;Asp539_Val550del]
CA2573050609
ENST00000560467.2:c.1529_1548del