Canonical Allele Identifier: PA2825178536
Gene: LDLR HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Gly335Cys
CA404082719
NM_000527.5:c.1003G>T
CA3054201316
NM_000527.5:c.1002_1003delinsAT