Canonical Allele Identifier: PA2825179849
Gene: LDLR HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Val506Leu
CA404086496
NM_000527.5:c.1516G>C
CA404086497
NM_000527.5:c.1516G>T