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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000437639.1:p.[His261_Lys266delinsProProThrArgArgPro;Val268_Ile271delinsArgLeuTrp;Tyr273_Phe276delinsProSerPro;Asn278_Asp288delinsSerSerSerProThrGlyThrArgSerGly;Ser290del]
CA645373248
ENST00000545707.5:c.777_781dup