Canonical Allele Identifier: PA2826212429
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251337
ClinVar RCV Id: RCV000238558 RCV000587367 RCV001345581 RCV004020952
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.His170Leu
CA10585025
NM_001195799.2:c.509A>T