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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.[Thr147_Gly151delinsAsnSerAlaArgAsp;Asn153_Asp166delinsThrSerSerSerValThrAlaAlaAsnAlaSerProTrpThr;Val168_Arg176delinsSerAlaThrTrpLeuGluThrAlaGly]
CA404080487
NM_001195803.2:c.440del