Canonical Allele Identifier: PA2826212351
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 431512
ClinVar RCV Id: RCV000497065 RCV003321637
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Pro140Leu
CA305296856
NM_001195799.2:c.419C>T