Canonical Allele Identifier: PA916000195
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251856
ClinVar RCV Id: RCV000237707 RCV000781505
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Ile488Asn
CA10585466
NM_001195798.2:c.1463T>A