Canonical Allele Identifier: PA2826217412
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1024550
ClinVar RCV Id: RCV001324750
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Leu621Phe
CA040651
NM_001195803.2:c.1861C>T