Canonical Allele Identifier: PA2826216743
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251836
ClinVar RCV Id: RCV000238538 RCV001248906 RCV004020966
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Ala348Val
CA10585447
NM_001195803.2:c.1043C>T