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
ENSP00000440520.1:p.[Pro620_Glu627delinsHisThrGlnHisLys;Thr629_Leu631del;Asn633_Tyr638delinsGlu;Cys640_His649delinsVal]
CA2813590029
ENST00000535915.5:c.1858_1859insACACCCAACA