Canonical Allele Identifier: PA2825179368
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 920869
ClinVar RCV Id: RCV001179919
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Leu422Phe
CA404084827
NM_000527.5:c.1264C>T