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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000440520.1:p.[Val483_His487del;Phe489_Tyr491delinsSerCysSer;Thr493_Gly505delinsLeuHisVal;Asn507_Val509del;Ile511_Ser513del]
CA16602332
ENST00000535915.5:c.1448_1449del