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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453513.2:p.[Val484_His488del;Phe490_Tyr492delinsSerCysSer;Thr494_Gly506delinsLeuHisVal;Asn508_Val510del;Ile512_Ser514del]
CA16602332
ENST00000560467.2:c.1451_1452del