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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000440520.1:p.[Asp597_Ser607delinsMetSerThrCysTrpLeuLysThrTyrCys;Glu609_Leu613delinsGlnArgIleTrp;His615_Leu617delinsSerSerThr;Gln619Ser;Arg621_Cys626delinsSerGlnGluGlu]
CA10654854
ENST00000535915.5:c.1788del