Canonical Allele Identifier: PA2826217098
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252040
ClinVar RCV Id: RCV000237380 RCV002519851
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Asp474Val
CA10585621
NM_001195803.2:c.1421A>T