Canonical Allele Identifier: PA2826215531
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252129
ClinVar RCV Id: RCV000238503 RCV001854909
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Val485Phe
CA10585695
NM_001195800.2:c.1453G>T