Canonical Allele Identifier: PA2825208416
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1791746
ClinVar RCV Id: RCV002430773
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys82Trp
CA404075606
NM_000527.5:c.246C>G