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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000252444.6:p.[Tyr662_Ile671delinsThrGlyLeuThrProAsnPheThrPro;Ser673_Gly678delinsGlnAlaSerMetSerThr;Asn680_Glu688delinsAlaThrGlyArgProSerTrpArgMet;Leu691delinsGlyTrp]
CA2497030087
ENST00000252444.10:c.1984del