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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.[Ser531_His542delinsThrAlaSerThrGlyLeuThrProAsnPheThrPro;Ile544_Ser545delinsGlnAla;Ile547_Asn553delinsMetSerThrGlyAlaThrGly;Lys555_Glu561delinsProSerTrpArgMetLys]
CA2582475119
ENST00000535915.5:c.1592_1595del