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_001182727.1:p.[Thr761_Val765delinsLysLeuTrpAla;Met767_Ala771delinsLeu;Gly773_Val775del;Gly777_Asn780delinsGlu;Lys782_Val787delinsMetArg;Ala789_Leu790del;Ile792_Leu794del;Ile796del;Leu798_Leu799delinsAla]
CA658653855
NM_001195798.2:c.2282_2309del