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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453696.2:p.[Val550del;Ile552_Trp562del;Asn564_Tyr576del;Gln578del;Ser580_His581del;Gln583_His588del;Phe590_Arg591del]
CA2573050609
ENST00000559340.2:c.1649_1668del