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
ENSP00000397829.2:p.[Asp188del;Cys190_Leu203del;Gly205_Leu217del]
CA2582474403
ENST00000455727.6:c.563_564insAGAG