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
ENSP00000453346.1:p.[Phe403_Met412delinsLeuProThrGly;Leu414_Asp415del;Glu418_Leu426delinsGly;Asn428_Asp433del]
CA10585358
ENST00000558013.5:c.1209del