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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453696.2:p.[Thr274_Gly278delinsHisSerAlaArgAsp;Asn280_Asp293delinsThrSerSerSerValThrAlaAlaAsnAlaSerProTrpThr;Val295_Arg303delinsSerAlaThrTrpLeuGluThrAlaGly]
CA029718
ENST00000559340.2:c.820del