Canonical Allele Identifier: PA100142
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251844
ClinVar RCV Id: RCV000238303
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Asp482His
CA10585454
NM_000527.5:c.1444G>C