Canonical Allele Identifier: PA2825181418
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 979144
ClinVar RCV Id: RCV001258218
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Leu815His
CA404098819
NM_000527.5:c.2444T>A