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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000440520.1:p.[Pro179_Cys181del;Asp183_Cys195delinsLeu;Pro197_Gln201del;Ser203_Asp204del;Asn206_Ile208del;Gly210Leu;Arg212_Arg216delinsPro]
CA2695223208
ENST00000535915.5:c.531_559del