Canonical Allele Identifier: PA2826214614
Gene: LDLR HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Gly167Cys
CA404082719
NM_001195800.2:c.499G>T
CA3054201316
NM_001195800.2:c.498_499delinsAT