Canonical Allele Identifier: PA2825208359
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1421767
ClinVar RCV Id: RCV001923846
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Lys38Asn
CA404074732
NM_000527.5:c.114A>C
CA404074734
NM_000527.5:c.114A>T