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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.[Asn616_Leu617del;Gln619Ser;Arg621_Leu631del;Asn633_Cys636del;Tyr638_Gln645delinsGluGlu]
CA2497030097
ENST00000535915.5:c.1847del