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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000397829.2:p.[Asp470_Ser480delinsMetSerThrCysTrpLeuLysThrTyrCys;Glu482_Leu486delinsGlnArgIleTrp;His488_Leu490delinsSerSerThr;Gln492Ser;Arg494_Cys499delinsSerGlnGluGlu]
CA10654854
ENST00000455727.6:c.1407del