Canonical Allele Identifier: PA645510778
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 440572
ClinVar RCV Id: RCV000508823 RCV001805125 RCV003328591
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Pro144Leu
CA305296798
NM_000527.5:c.431C>T