Canonical Allele Identifier: PA916001369
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 375840
ClinVar RCV Id: RCV000417325 RCV001248957
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Val827Phe
CA16602353
NM_001195798.2:c.2479G>T