Canonical Allele Identifier: PA2826213380
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251895
ClinVar RCV Id: RCV000238265 RCV000996755 RCV001183444
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Lys477Arg
CA10585500
NM_001195799.2:c.1430A>G