Canonical Allele Identifier: PA300496
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 183130
ClinVar RCV Id: RCV000162008 RCV000238415 RCV001181781 RCV002415707
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Gly701Ser
CA023635
NM_000527.5:c.2101G>A