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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453346.1:p.[Met767_Ala771delinsCysLeuThrLys;Gly773_Val775delinsTrp;Gly777_Asn780delinsThrLeuLeuAla;Lys782_Val787delinsGluMetArg;Ala789_Leu790del;Ile792Pro;Leu794_Ile796delinsAla]
CA10585818
ENST00000558013.5:c.2299del