Canonical Allele Identifier: PA2826216354
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 183106
ClinVar RCV Id: RCV000161977 RCV000211596 RCV000587327 RCV000844735 RCV002381528
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Gly216Ser
CA023406
NM_001195803.2:c.646G>A