Canonical Allele Identifier: PA2826214050
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2090561
ClinVar RCV Id: RCV003013165
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Ala748Ser
CA404096845
NM_001195799.2:c.2242G>T