Canonical Allele Identifier: PA2826216840
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251886
ClinVar RCV Id: RCV000237591 RCV001177034 RCV002401935 RCV004017558
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Thr383Met
CA034662
NM_001195803.2:c.1148C>T