Canonical Allele Identifier: PA211597
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 161272
ClinVar RCV Id: RCV000161949 RCV000211611 RCV000609054 RCV000771169 RCV002354338 RCV003952707 RCV002051665
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Gly20Arg
CA023728
NM_000527.5:c.58G>A
CA404071839
NM_000527.5:c.58G>C