Canonical Allele Identifier: PA2826216271
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251572
ClinVar RCV Id: RCV000237508 RCV001176043 RCV002379057
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Cys191Phe
CA10585227
NM_001195803.2:c.572G>T