Canonical Allele Identifier: PA2826214531
Gene: LDLR HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Asp139Glu
CA10585197
NM_001195800.2:c.417T>G
CA404081054
NM_001195800.2:c.417T>A