Canonical Allele Identifier: PA2825180342
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1684855
ClinVar RCV Id: RCV002247947
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Thr597Asn
CA404089788
NM_000527.5:c.1790C>A