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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.[Thr593_Val597delinsLysLeuTrpAla;Met599_Ala603delinsLeu;Gly605_Val607del;Gly609_Asn612delinsGlu;Lys614_Val619delinsMetArg;Ala621_Leu622del;Ile624_Leu626del;Ile628del;Leu630_Leu631delinsAla]
CA658653855
NM_001195800.2:c.1778_1805del