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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000437639.1:p.[Glu499_Ile501delinsLysPro;Ala504_Leu507delinsValPro;Gly509Ala;Asp511Gln;Asn513_Asn518delinsProMetSerThrCysTrp;Leu520_Leu527delinsLysThrTyrCysProGlnArgIleTrp;Phe528_His529insSerSer]
CA10585670
ENST00000545707.5:c.1495del