Canonical Allele Identifier: PA2826216886
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 183120
ClinVar RCV Id: RCV000161994 RCV000238217 RCV000775072 RCV004017445 RCV002399589
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Pro399Ser
CA023533
NM_001195803.2:c.1195C>T