Canonical Allele Identifier: PA2826217071
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 373769
ClinVar RCV Id: RCV000417321 RCV001178326 RCV003477910 RCV002402107
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Gly465Arg
CA036598
NM_001195803.2:c.1393G>A
CA404089763
NM_001195803.2:c.1393G>C