Canonical Allele Identifier: PA645376206
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 431510
ClinVar RCV Id: RCV000497104
ClinVar Variation Id: 441187
ClinVar RCV Id: RCV000509474 RCV002341198
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys160Phe
CA404076712
NM_000527.5:c.479G>T
CA645373224
NM_000527.5:c.479_480delinsTT