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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453513.2:p.[Met727_Ala731delinsCysLeuThrLys;Gly733_Val735delinsTrp;Gly737_Asn740delinsThrLeuLeuAla;Lys742_Val747delinsGluMetArg;Ala749_Leu750del;Ile752Pro;Leu754_Ile756delinsAla]
CA10585818
ENST00000560467.2:c.2179del