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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000252444.6:p.[Pro771_Asn774delinsArgArgSerThr;His776_Ser777delinsThrArg;Lys779_Cys782delinsSerLeuPro;Cys784del;Asp786_Leu790delinsAlaArgThr;Arg792_Leu798delinsCysCysTrpProGly;Glu800del]
CA10585749
ENST00000252444.10:c.2312del