Canonical Allele Identifier: PA1139697677
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 927148
ClinVar RCV Id: RCV001190234
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Ser198Leu
CA044071
NM_001195798.2:c.593C>T