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
ENSP00000453346.1:p.Tyr553del
CA10585549
ENST00000558013.5:c.1659_1661delinsATACTTTCA
CA404089214
ENST00000558013.5:c.1659C>G
CA404089216
ENST00000558013.5:c.1659C>A
CA645509284
ENST00000558013.5:c.1658_1660del