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
ENSP00000252444.6:p.[Val636del;Ile638_Tyr639del;Leu641_Asn645del;Gln647_Leu654del;Leu656_Trp663del;Asp665_Val676del]
CA2573050609
ENST00000252444.10:c.1907_1926del