Canonical Allele Identifier: PA2826217176
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2453913
ClinVar RCV Id: RCV003188048
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Ile501Leu
CA404092577
NM_001195803.2:c.1501A>C