Canonical Allele Identifier: PA2825179245
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3074081
ClinVar RCV Id: RCV004012623
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Ala399Val
CA404084670
NM_000527.5:c.1196C>T