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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000437639.1:p.[Val615_Leu616delinsCysPro;Ile618_Phe623delinsHisArgAlaProArg;Cys625Pro;Gly627_Phe629delinsProGlyGly;Leu631_Arg636delinsProSerMetGluGlu;Lys638_Asn644delinsAlaAla]
CA2830773967
ENST00000545707.5:c.1842dup