Canonical Allele Identifier: PA2825180429
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3074505
ClinVar RCV Id: RCV004014039
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Lys617Glu
CA404092332
NM_000527.5:c.1849A>G