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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.[Gln544_Val549del;Leu551_Val558del;Thr560_Gln561del;Thr563_Arg566del;Val568del;Asp570_Thr571del;Arg573Gly]
CA2695228316
ENST00000545707.5:c.1630del