Canonical Allele Identifier: PA2826216854
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1321218
ClinVar RCV Id: RCV002227545
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Ser390Phe
CA404086568
NM_001195803.2:c.1169C>T