Canonical Allele Identifier: PA2826217096
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252038
ClinVar RCV Id: RCV000237978 RCV002411091 RCV002518489
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Asp474His
CA10585619
NM_001195803.2:c.1420G>C