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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.[Ala627_Ile628delinsPro;Ala631_Leu634delinsValPro;Gly636Ala;Asp638Gln;Asn640_Asn645delinsProMetSerThrCysTrp;Leu647_Leu654delinsLysThrTyrCysProGlnArgIleTrp;His656delinsSerSer]
CA10654853
NM_000527.5:c.1878del