Canonical Allele Identifier: PA2825178536
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1395739
ClinVar RCV Id: RCV001919787 RCV003318699
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Gly335Cys
CA404082719
NM_000527.5:c.1003G>T