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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.[Met599_Ala603delinsCysLeuThrLys;Gly605_Val607delinsTrp;Gly609_Asn612delinsThrLeuLeuAla;Lys614_Val619delinsGluMetArg;Ala621_Leu622del;Ile624Pro;Leu626_Ile628delinsAla]
CA10585818
ENST00000455727.6:c.1795del