Canonical Allele Identifier: PA916001073
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252227
ClinVar RCV Id: RCV000237572 RCV000521276 RCV001258046
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Asp707Val
CA10585780
NM_001195798.2:c.2120A>T