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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.[Val879_Leu880delinsCysPro;Ile882_Phe887delinsHisArgAlaProArg;Cys889Pro;Gly891_Phe893delinsProGlyGly;Leu895_Arg900delinsProSerMetGluGlu;Lys902_Asn908delinsAlaAla]
CA2830773967
ENST00000252444.10:c.2634dup