Canonical Allele Identifier: PA1139684990
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 925475
ClinVar RCV Id: RCV001187445
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Ser397Phe
CA404084657
NM_001195798.2:c.1190C>T