Canonical Allele Identifier: PA2826211224
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 926076
ClinVar RCV Id: RCV001188426
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Leu14Phe
CA085656
NM_001195798.2:c.42G>C
CA404071663
NM_001195798.2:c.42G>T