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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000454071.1:p.[Gly773_Val775del;Gly777_Asn780delinsThrLeuLeuAla;Lys782_Val787delinsGluMetArg;Ala789_Leu790del;Ile792_Leu794del;Ile796del;Leu798_Leu802delinsAla]
CA10585826
ENST00000558518.6:c.2318del