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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.[Glu781_Val787delinsArg;Ala789_Leu790del;Ile792_Leu794del;Ile796del;Leu798_Trp810delinsAla]
CA2695228323
ENST00000558518.6:c.2341del