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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000454071.1:p.[Leu808_Asn819delinsTyrGlyArgThrGlyGlyLeuArgThrSerThrAla;Ile821_Asn825delinsThrLeuThrThr;Val827_Ile838delinsSerIleArgArgProGlnArgMetArgSerThrPhe]
CA645509302
ENST00000558518.6:c.2422_2425del