Canonical Allele Identifier: PA915999760
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251732
ClinVar RCV Id: RCV000238099 RCV002347940
ClinVar Variation Id: 565474
ClinVar RCV Id: RCV000685044
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Phe403Leu
CA10585355
NM_001195798.2:c.1207T>C
CA404084694
NM_001195798.2:c.1209C>G
CA404084695
NM_001195798.2:c.1209C>A