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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011526312.1:p.[Ser417_Tyr419del;Ser421_Val430delinsGly;Leu432_Asp433delinsSer;Glu435_Val436delinsPro;Asn439_Trp443del;Asp445_Leu446delinsProThr]
CA10585374
XM_011528010.2:c.1245_1249dup