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
ENSP00000453513.2:p.[Asp227_Cys236delinsGlyGlyLysLeu;Pro238_Gln242del;Ser244_Asp245del;Asn247_Ile249del;Gly251Leu;Arg253_Arg257delinsPro]
CA023745
ENST00000560467.2:c.680_681del