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.[Ser127_Trp130delinsLeuLeuGln;Cys132_Asp133del;Ser135_Cys138delinsLeuArgTrp;Asp140_Lys155delinsArg]
CA2739291175
ENST00000252444.10:c.377dup