Canonical Allele Identifier: PA2826216846
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251890
ClinVar RCV Id: RCV000238197 RCV002518487
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Arg386Lys
CA10585496
NM_001195803.2:c.1157G>A