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.[Asn649_Tyr660delinsGln;Lys662_Val668del;Ile670_Asn673del;Asp675_Tyr679delinsLeu]
CA2499225334
ENST00000455727.6:c.1945_1949del