Canonical Allele Identifier: PA2826216282
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 161282
ClinVar RCV Id: RCV000238216 RCV001181337 RCV002051675 RCV003477564 RCV003372619
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Gly196Ser
CA023798
NM_001195803.2:c.586G>A