Canonical Allele Identifier: PA645378024
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251658
ClinVar RCV Id: RCV000238443
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys364Ser
CA10585299
NM_000527.5:c.1091G>C
CA404083282
NM_000527.5:c.1090T>A