Canonical Allele Identifier: PA2826215663
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252219
ClinVar RCV Id: RCV000237906 RCV000589820 RCV000826172 RCV001284644 RCV002418071
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Pro531Leu
CA038525
NM_001195800.2:c.1592C>T