Canonical Allele Identifier: PA2825180340
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 920419
ClinVar RCV Id: RCV001179174
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Lys596Glu
CA404089781
NM_000527.5:c.1786A>G