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
ENSP00000437639.1:p.[Asn467_Leu472delinsGluPro;Glu475_Ala479del;Pro481_Ser483del;Ala485_Ile496delinsGlyGly]
CA2497030090
ENST00000545707.5:c.1398_1399insG