Canonical Allele Identifier: PA2826213393
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251900
ClinVar RCV Id: RCV000238520
ClinVar Variation Id: 993226
ClinVar RCV Id: RCV001284640 RCV003284137 RCV003741255
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Val482Leu
CA034835
NM_001195799.2:c.1444G>C
CA10585504
NM_001195799.2:c.1444G>T