Canonical Allele Identifier: PA2826215151
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_001182729.1:p.Ser349Phe
CA404086568
NM_001195800.2:c.1046C>T