Canonical Allele Identifier: PA250488
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3735
ClinVar RCV Id: RCV000003933 RCV001220262 RCV002345226
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Leu401His
CA023433
NM_000527.5:c.1202T>A