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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000397829.2:p.[Val563_Val568delinsGlyGlnLeuHisSer;Thr570_His572delinsLysAsp;Thr574_Val578delinsAlaHisAsnHis;Asp580_Thr581delinsThrCys;Arg583_Leu584insHis;Gly586Ala;Thr588delinsTrpGlyHis;Gly590delinsTrpAla]
CA10585801
ENST00000455727.6:c.1682dup