Canonical Allele Identifier: PA916001057
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_001182727.1:p.Pro699Leu
CA038525
NM_001195798.2:c.2096C>T