Canonical Allele Identifier: PA645376427
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 430757
ClinVar RCV Id: RCV000495884 RCV000588844
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys184Ser
CA404077193
NM_000527.5:c.550T>A
CA404077216
NM_000527.5:c.551G>C