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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.[Val550del;Ile552_Tyr553del;Leu555_Asn559del;Gln561_Leu568del;Leu570_Trp577del;Asp579_Val590del]
CA2573050609
NM_000527.5:c.1649_1668del