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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000454071.1:p.[Glu723_Val727del;Leu729_Gln739del;Thr741_Arg744del;Val746del;Asp748_Thr749del;Arg751_Leu752delinsGly]
CA10585796
ENST00000558518.6:c.2167del