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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000397829.2:p.[His220_Lys225delinsProProThrArgArgPro;Val227_Ile230delinsArgLeuTrp;Tyr232_Phe235delinsProSerPro;Asn237_Asp247delinsSerSerSerProThrGlyThrArgSerGly;Ser249del]
CA645373248
ENST00000455727.6:c.654_658dup