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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.[Cys528Leu;Cys530_Met534delinsGlnValTyrLeuArg;Leu536_Ala537delinsProGly;Asp539_Thr545delinsHisAlaAlaGlyGlnGlyHis;Ala547del;Ala549_Thr556delinsLeuProHisArgGly]
CA2695228174
NM_001195800.2:c.1565_1580dup