Canonical Allele Identifier: PA916001714
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 440543
ClinVar RCV Id: RCV000508808 RCV001857283 RCV003736799 RCV004023445
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Cys39Arg
CA404074738
NM_001195803.2:c.115T>C