Canonical Allele Identifier: PA2826216865
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251898
ClinVar RCV Id: RCV000238309 RCV000590312
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Ala394Thr
CA10585503
NM_001195803.2:c.1180G>A