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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.[Asn489_Leu490del;Gln492Ser;Arg494_Leu504del;Asn506_Cys509del;Tyr511_Gln518delinsGluGlu]
CA2497030097
NM_001195800.2:c.1466del