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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000397829.2:p.[Thr553_Val559delinsPro;Leu561_Val568del;Thr570_Gln571del;Thr573_Arg576del;Val578del;Asp580_Ser582delinsSerGly]
CA2739291176
ENST00000455727.6:c.1656del