Canonical Allele Identifier: PA2826216292
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 627979
ClinVar RCV Id: RCV000772250 RCV004017731
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Cys198Arg
CA404082659
NM_001195803.2:c.592T>C