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
NP_001182728.1:p.[Val483_His487delinsGly;Phe489_Tyr491delinsSerCysSer;Thr493_Gly505delinsLeuHisVal;Asn507_Val509del;Ile511del]
CA1139771250
NM_001195799.2:c.1445dup