Canonical Allele Identifier: PA2826217354
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 431545
ClinVar RCV Id: RCV000497031 RCV001856995
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Ala593Thr
CA404095882
NM_001195803.2:c.1777G>A