Canonical Allele Identifier: PA1139697635
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 927915
ClinVar RCV Id: RCV001191488 RCV002484050
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Arg183Ser
CA404077170
NM_001195798.2:c.547C>A