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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453513.2:p.[Asn617_Leu618del;Gln620Ser;Arg622_Leu632del;Asn634_Cys637del;Tyr639_Gln646delinsGluGlu]
CA2497030097
ENST00000560467.2:c.1850del