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
ENSP00000453557.1:p.[Pro220_Cys222del;Asp224_Cys236delinsLeu;Pro238_Gln242del;Ser244_Asp245del;Asn247_Ile249del;Gly251Leu;Arg253_Arg257delinsPro]
CA2695223208
ENST00000557933.5:c.654_682del