Canonical Allele Identifier: PA645376973
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251393
ClinVar RCV Id: RCV000237530 RCV000985770 RCV000781498 RCV002365242
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Glu228Gln
CA044313
NM_000527.5:c.682G>C