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.[Asn639_Tyr650delinsGln;Lys652_Val658del;Ile660_Asn663del;Asp665_Tyr669delinsLeu]
CA2499225334
ENST00000545707.5:c.1915_1919del