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
ENSP00000437639.1:p.[Asn278_Met285delinsThrGly;Leu287_Asp288del;Glu291_Leu299delinsGly;Asn301_Thr307del]
CA2582474639
ENST00000545707.5:c.831del
CA2830773962
ENST00000545707.5:c.833del