Canonical Allele Identifier: PA645378314
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251754
ClinVar RCV Id: RCV000237152 RCV003581618
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Arg416Leu
CA10585376
NM_000527.5:c.1247G>T