Canonical Allele Identifier: PA916000778
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 523726
ClinVar RCV Id: RCV000627180 RCV002413781
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Asn632Ile
CA404092735
NM_001195798.2:c.1895A>T