Canonical Allele Identifier: PA645375979
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251196
ClinVar RCV Id: RCV000238545 RCV001804974
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Ser130Thr
CA10584895
NM_000527.5:c.388T>A