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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.[Val498del;Val500_Thr510delinsLeu;Phe512del;Glu514_Lys518delinsIle;Ile522_Val527del]
CA2695228115
ENST00000558518.6:c.1491del