Canonical Allele Identifier: PA2826211534
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2695703
ClinVar RCV Id: RCV003581994
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Asp129Glu
CA404076336
NM_001195798.2:c.387C>A
CA404076337
NM_001195798.2:c.387C>G