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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.[Gly24delinsAlaThr;Arg26_Cys27delinsAlaLys;Arg29_Ile40delinsThrSerSerSerAlaLysThrGlyAsnAlaSerProThr;Tyr42_Gly48delinsGlySerAlaMetAlaAlaLeu;Glu51_Gln53delinsArg]
CA2582471925
NM_000527.5:c.71del