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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453346.1:p.[Val524_His528delinsGly;Phe530_Tyr532delinsSerCysSer;Thr534_Gly546delinsLeuHisVal;Asn548_Val550del;Ile552_Tyr553del]
CA2695238661
ENST00000558013.5:c.1570dup