Canonical Allele Identifier: PA2826215130
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 440649
ClinVar RCV Id: RCV000508709
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Lys339Asn
CA404086505
NM_001195800.2:c.1017G>C
CA404086506
NM_001195800.2:c.1017G>T