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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.[Ser195_Ser198del;Phe200_Leu205delinsArgPro;Gly207_His211del;Trp214_Ser226delinsThrAla]
CA10584997
NM_000527.5:c.583_589del