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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.[Leu614_Leu618delinsSerSerThr;Gln620Ser;Arg622_Leu632del;Asn634_Cys637del;Tyr639_Pro643delinsGluGlu]
CA2573320554
ENST00000560467.2:c.1839del