Canonical Allele Identifier: PA2826214230
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 453084
ClinVar RCV Id: RCV000521404 RCV001273280 RCV004003649
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Asn30Lys
CA404074651
NM_001195800.2:c.90C>A
CA404074652
NM_001195800.2:c.90C>G