Canonical Allele Identifier: PA2825208586
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1389105
ClinVar RCV Id: RCV001886997
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Arg185Trp
CA404077229
NM_000527.5:c.553A>T