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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.[Ser445_His456delinsAsnAlaSerThrGlyLeuThrProAsnPheThrPro;Ile458_Ser459delinsGlnAla;Ile461_Asn467delinsMetSerThrGlyAlaThrGly;Lys469_Glu475delinsProSerTrpArgMet]
CA10576315
NM_001195803.2:c.1334_1338delinsA