Canonical Allele Identifier: PA2826215481
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 924020
ClinVar RCV Id: RCV001185135
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Ser462Arg
CA404092662
NM_001195800.2:c.1384A>C
CA404092681
NM_001195800.2:c.1386T>A
CA404092684
NM_001195800.2:c.1386T>G