Canonical Allele Identifier: PA2826215419
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252052
ClinVar RCV Id: RCV000237416
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Phe441Leu
CA10585632
NM_001195800.2:c.1321T>C
CA404089853
NM_001195800.2:c.1323C>A
CA404089854
NM_001195800.2:c.1323C>G